Difference between revisions of "Lab Journal - Task 7 (PAH)"
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===Mutation Map=== |
===Mutation Map=== |
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| + | ! style="background:#32CD32;" | SNP ID |
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| + | ! style="background:#32CD32;" | Pos. (bp) |
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| + | ! style="background:#32CD32;" | Nucleotides |
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| + | ! style="background:#32CD32;" | Amino acids |
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| + | ! style="background:#32CD32;" | Database |
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|rs62514891||1||A>G||Met1Val||OMIM/dbSNP |
|rs62514891||1||A>G||Met1Val||OMIM/dbSNP |
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Revision as of 13:52, 5 August 2013
Mutation Map
| SNP ID | Pos. (bp) | Nucleotides | Amino acids | Database |
|---|---|---|---|---|
| rs62514891 | 1 | A>G | Met1Val | OMIM/dbSNP |
| CM000541 | 2 | T>G | Met1Arg | HGMD |
| rs62514893 | 3 | G>A | Met1Ile | OMIM/dbSNP |
| CM010947 | 46 | T>C | Ser16Pro | HGMD |
| CM000542 | 59 | A>T | Gln20Leu | HGMD |
| HM972014 | 65 | C>A | Thr22Lys | HGMD |
| rs62642926 | 117 | C>G | Phe39Leu | OMIM/dbSNP |
| CM961063 | 119 | C>T | Ser40Leu | HGMD |
| rs74603784 | 136 | G>A | Gly46Ser | OMIM/dbSNP |
| CM993577 | 140 | C>A | Ala47Glu | HGMD |
| rs5030841 | 143 | T>C | Leu48Ser | OMIM/dbSNP |
| CM981427 | 158 | G>A | Arg53His | HGMD |
| CM024619 | 181 | A>G | Asn61Asp | HGMD |
| rs75193786 | 194 | T>C | Ile65Thr | OMIM/dbSNP |
| CM981429 | 208 | T>C | Ser70Pro | HGMD |
| CM961066 | 250 | G>T | Asp84Tyr | HGMD |
| CM981431 | 281 | T>G | Ile94Ser | HGMD |
| CM992944 | 299 | A>G | His100Arg | HGMD |
| CM045080 | 307 | G>A | Gly103Ser | HGMD |
| CM010951 | 329 | C>T | Ser110Leu | HGMD |
| rs76296470 | 331 | C>T | Arg111Ter | OMIM/dbSNP |
| CM971124 | 365 | C>A | Pro122Gln | HGMD |
| rs199475681 | 368 | G>T | Arg123Ile | dbSNP |
| CM010952 | 385 | G>T | Asp129Tyr | HGMD |
| CM981432 | 395 | C>T | Ala132Val | HGMD |
| CM961070 | 434 | A>T | Asp145Val | HGMD |
| CM056668 | 470 | G>T | Arg157Ile | HGMD |
| rs5030843 | 473 | G>A | Arg158Gln | OMIM/dbSNP |
| CM992371 | 506 | G>A | Arg169His | HGMD |
| CM011946 | 508 | C>G | His170Asp | HGMD |
| rs192592111 | 516 | G>T | Gln172His | dbSNP |
| CM981435 | 561 | G>C | Trp187Cys | HGMD |
| CM950887 | 581 | T>C | Leu194Pro | HGMD |
| CM981438 | 608 | G>A | Cys203Tyr | HGMD |
| rs62514927 | 611 | A>G | Tyr204Cys | OMIM/dbSNP |
| CM010961 | 648 | C>G | Tyr216Term | HGMD |
| rs62514934 | 662 | A>G | Glu221Gly | OMIM/dbSNP |
| CM971131 | 673 | C>A | Pro225Thr | HGMD |
| CM034744 | 716 | G>A | Gly239Asp | HGMD |
| rs5030846 | 727 | C>T | Arg243Ter | OMIM/dbSNP |
| rs62508588 | 728 | G>A | Arg243Gln | OMIM/dbSNP |
| rs118203923 | 731 | C>T | Pro244Leu | OMIM/dbSNP |
| CM920550 | 731 | C>T | Pro244Leu | HGMD |
| rs5030847 | 754 | C>T | Arg252Trp | OMIM/dbSNP |
| CM920553 | 763 | T>G | Leu255Val | HGMD |
| rs62642930 | 764 | T>C | Leu255Ser | OMIM/dbSNP |
| rs118203921 | 776 | C>T | Ala259Val | OMIM/dbSNP |
| CM910286 | 776 | C>T | Ala259Val | HGMD |
| rs5030850 | 781 | C>T | Arg261Ter | OMIM/dbSNP |
| rs5030849 | 782 | G>A | Arg261Gln | OMIM/dbSNP |
| CM981442 | 794 | G>A | Cys265Tyr | HGMD |
| rs62508752 | 796 | A>C | Thr266Ala | dbSNP |
| CM081725 | 813 | T>G | His271Gln | HGMD |
| rs62514952 | 814 | G>T | Gly272Ter | OMIM/dbSNP |
| rs62514953 | 818 | C>T | Ser273Phe | OMIM/dbSNP |
| CM034745 | 827 | T>G | Met276Arg | HGMD |
| rs78655458 | 829 | T>G | Tyr277Asp | OMIM/dbSNP |
| rs62508698 | 838 | G>A | Glu280Lys | OMIM/dbSNP |
| CM992948 | 841 | C>T | Pro281Ser | HGMD |
| rs5030851 | 842 | C>T | Pro281Leu | OMIM/dbSNP |
| CM055475 | 869 | A>G | His290Arg | HGMD |
| rs62642933 | 896 | T>G | Phe299Cys | OMIM/dbSNP |
| CM015134 | 922 | C>T | Leu308Phe | HGMD |
| rs62642936 | 932 | T>C | Leu311Pro | OMIM/dbSNP |
| CM024623 | 940 | C>T | Pro314Ser | HGMD |
| rs62514959 | 977 | G>A | Trp326Ter | OMIM/dbSNP |
| CM990999 | 981 | T>G | Phe327Leu | HGMD |
| CM961082 | 992 | T>G | Phe331Cys | HGMD |
| CM043317 | 1007 | A>G | Gln336Arg | HGMD |
| CM010981 | 1022 | A>C | Lys341Thr | HGMD |
| CM000550 | 1031 | G>T | Gly344Val | HGMD |
| rs62508646 | 1045 | T>C | Ser349Pro | OMIM/dbSNP |
| CM981453 | 1048 | T>A | Ser350Thr | HGMD |
| rs62516095 | 1068 | C>G | Tyr356Ter | OMIM/dbSNP |
| CM101146 | 1071 | C>A | Cys357Term | HGMD |
| rs5030854 | 1076 | C>G | Ser359Ter | OMIM/dbSNP |
| CM068054 | 1089 | G>T | Lys363Asn | HGMD |
| CM010984 | 1130 | A>G | Tyr377Cys | HGMD |
| CM950896 | 1157 | A>G | Tyr386Cys | HGMD |
| rs62516101 | 1162 | G>A | Val388Met | OMIM/dbSNP |
| rs5030856 | 1169 | A>G | Glu390Gly | OMIM/dbSNP |
| rs199475695 | 1175 | T>C | Phe392Ser | dbSNP |
| CM043319 | 1184 | C>A | Ala395Asp | HGMD |
| CM030921 | 1204 | T>C | Phe402Leu | HGMD |
| rs62644473 | 1220 | C>T | Pro407Leu | OMIM/dbSNP |
| rs5030858 | 1222 | C>T | Arg408Trp | dbSNP |
| rs5030859 | 1223 | G>A | Arg408Gln | OMIM/dbSNP |
| rs79931499 | 1238 | G>C | Arg413Pro | OMIM/dbSNP |
| CM101145 | 1242 | C>A | Tyr414Term | HGMD |
| CM090791 | 1247 | C>A | Pro416Gln | HGMD |
| CM920565 | 1252 | A>C | Thr418Pro | HGMD |
| rs199475696 | 1262 | T>C | Ile421Thr | dbSNP |
| CM993961 | 1271 | T>C | Leu424Ser | HGMD |
| CM010986 | 1289 | T>C | Leu430Pro | HGMD |
| CM961086 | 1340 | C>A | Ala447Asp | HGMD |
