Difference between revisions of "Hemochromatosis ALL SNP TABLE"
From Bioinformatikpedia
Bernhoferm (talk | contribs) |
Bernhoferm (talk | contribs) |
||
| Line 1: | Line 1: | ||
<figtable id="all_snps"> |
<figtable id="all_snps"> |
||
| − | {| class="wikitable" style="width: |
+ | {| class="wikitable" style="width: 600px; margin: 1em 1em 1em 0; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000" |
|- |
|- |
||
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position |
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Position |
||
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change |
! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Amino acid change |
||
| − | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" | |
+ | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |Type |
| + | ! style="text-align:left; border-style: solid; border-width: 1px 1px 2px 1px" |HGMD/dbSNP id |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270,rs149342416 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270,rs149342416 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |7 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |7 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Pro |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs114758821 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs114758821 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |17 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |17 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143662783 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |23 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |23 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148161858 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |26 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |26 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Leu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |35 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |35 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs2242956 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |43 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |43 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Asp |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469,rs28934889 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469,rs28934889 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |58 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |58 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Phe |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Phe |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147297176 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147297176 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470,rs28934890,rs111033557 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470,rs28934890,rs111033557 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246,rs147426902 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246,rs147426902 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827,rs1799945 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827,rs1799945 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718,rs1800730 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718,rs1800730 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Glu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |67 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |67 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs139523708 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |71 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |71 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |76 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |76 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Ser |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625342 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625342 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719,rs28934597 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719,rs28934597 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |100 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |100 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |103 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |103 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720,rs28934596 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720,rs28934596 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |106 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |106 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721,rs28934595 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721,rs28934595 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |160 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |160 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs149662565 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ser |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs145475682 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |162 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148480830 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148480830 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |163 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |163 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |166 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |166 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Lys-Glu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144170531 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810,rs146519482 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810,rs146519482 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Trp-Term |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |188 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |188 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Val |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |192 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |192 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Term |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140957442 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140957442 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |217 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Thr-Ile |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs4986950 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gly |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097,rs62625346 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097,rs62625346 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Trp |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs144797937 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |230 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |245 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Pro-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs140515012 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |248 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |251 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Phe-Leu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150402693 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |252 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gly |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138176635 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |256 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |259 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Asn-Ser |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs143846467 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |272 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |272 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |275 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Glu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771,rs140080192 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771,rs140080192 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828,rs1800562 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828,rs1800562 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271,rs111033563 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271,rs111033563 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028,rs143175221 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028,rs143175221 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |298 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |298 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Glu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Glu |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs114038675 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs114038675 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |311 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Arg |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Val |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148632352 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs148632352 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |315 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Gly |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs147519426 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |318 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ile |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs141229562 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |322 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs150716212 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |327 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs138993448 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722,rs111033558 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722,rs111033558 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |339 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Met-Val |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |N/A |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |342 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |342 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-Tyr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-Tyr |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs35201683 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs35201683 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |342 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |342 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Tyr-Term |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625348 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs62625348 |
||
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |347 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-His |
||
| + | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-Synonymous |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |rs146508927 |
||
|- |
|- |
||
Latest revision as of 17:48, 10 June 2012
<figtable id="all_snps">
| Position | Amino acid change | Type | HGMD/dbSNP id |
|---|---|---|---|
| 6 | Arg-Ser | Non-Synonymous | CM032270,rs149342416 |
| 7 | Pro-Pro | Synonymous | rs114758821 |
| 17 | Thr-Ile | Non-Synonymous | rs143662783 |
| 23 | Arg-His | Non-Synonymous | rs148161858 |
| 26 | Arg-Leu | Non-Synonymous | N/A |
| 35 | Met-Thr | Non-Synonymous | rs2242956 |
| 43 | Gly-Asp | Non-Synonymous | N/A |
| 53 | Val-Met | Non-Synonymous | CM994469,rs28934889 |
| 58 | Phe-Phe | Synonymous | rs147297176 |
| 59 | Val-Met | Non-Synonymous | CM994470,rs28934890,rs111033557 |
| 63 | His-His | Synonymous | HM971246,rs147426902 |
| 63 | His-Asp | Non-Synonymous | CM960827,rs1799945 |
| 65 | Ser-Cys | Non-Synonymous | CM990718,rs1800730 |
| 66 | Arg-Cys | Non-Synonymous | CM033969 |
| 66 | Arg-Glu | Non-Synonymous | N/A |
| 67 | Arg-His | Non-Synonymous | rs139523708 |
| 71 | Arg-Term | Nonsense | CM020721 |
| 76 | Ser-Ser | Synonymous | rs62625342 |
| 93 | Gly-Arg | Non-Synonymous | CM990719,rs28934597 |
| 100 | Val-Ala | Non-Synonymous | N/A |
| 103 | Trp-Ala | Non-Synonymous | N/A |
| 105 | Ile-Thr | Non-Synonymous | CM990720,rs28934596 |
| 106 | Met-Thr | Non-Synonymous | N/A |
| 127 | Gln-His | Non-Synonymous | CM990721,rs28934595 |
| 160 | Pro-Thr | Non-Synonymous | rs149662565 |
| 162 | Ala-Ser | Non-Synonymous | rs145475682 |
| 162 | Ala-Ala | Synonymous | rs148480830 |
| 163 | Trp-Ala | Non-Synonymous | N/A |
| 166 | Lys-Glu | Non-Synonymous | rs144170531 |
| 168 | Glu-Gln | Non-Synonymous | CM004810,rs146519482 |
| 168 | Glu-Term | Nonsense | CM004106 |
| 169 | Trp-Term | Nonsense | CM004107 |
| 176 | Ala-Val | Non-Synonymous | CM015326 |
| 183 | Leu-Pro | Non-Synonymous | CM081301 |
| 188 | Pro-Val | Non-Synonymous | N/A |
| 192 | Gln-Term | Nonsense | rs140957442 |
| 217 | Thr-Ile | Non-Synonymous | rs4986950 |
| 224 | Arg-Gly | Non-Synonymous | N/A |
| 224 | Arg-Gln | Non-Synonymous | CM034097,rs62625346 |
| 224 | Arg-Trp | Non-Synonymous | rs144797937 |
| 230 | Tyr-His | Non-Synonymous | N/A |
| 245 | Pro-Ala | Non-Synonymous | rs140515012 |
| 248 | Ala-Thr | Non-Synonymous | N/A |
| 251 | Phe-Leu | Non-Synonymous | rs150402693 |
| 252 | Glu-Gly | Non-Synonymous | rs138176635 |
| 256 | Val-Ala | Non-Synonymous | N/A |
| 259 | Asn-Ser | Non-Synonymous | rs143846467 |
| 272 | Val-Leu | Non-Synonymous | CM024530 |
| 275 | Gly-Glu | Non-Synonymous | N/A |
| 277 | Glu-Lys | Non-Synonymous | CM994771,rs140080192 |
| 282 | Cys-Ser | Non-Synonymous | CM004391 |
| 282 | Cys-Tyr | Non-Synonymous | CM960828,rs1800562 |
| 283 | Gln-Pro | Non-Synonymous | CM032271,rs111033563 |
| 295 | Val-Ala | Non-Synonymous | HM030028,rs143175221 |
| 298 | Glu-Glu | Synonymous | rs114038675 |
| 311 | Ser-Arg | Non-Synonymous | N/A |
| 315 | Val-Val | Synonymous | rs148632352 |
| 315 | Val-Gly | Non-Synonymous | rs147519426 |
| 318 | Val-Ile | Non-Synonymous | rs141229562 |
| 322 | Ile-Thr | Non-Synonymous | rs150716212 |
| 327 | Ile-Thr | Non-Synonymous | rs138993448 |
| 330 | Arg-Met | Non-Synonymous | CM990722,rs111033558 |
| 339 | Met-Val | Non-Synonymous | N/A |
| 342 | Tyr-Tyr | Synonymous | rs35201683 |
| 342 | Tyr-Term | Nonsense | rs62625348 |
| 347 | Arg-His | Non-Synonymous | rs146508927 |
</figtable>
