Hemochromatosis SNPdbe SNP TABLE
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Revision as of 01:12, 10 June 2012 by Bernhoferm (talk | contribs)
<figtable id="TODO_ID">
| dbSNP ID | Sequence | Type | Amino acid change | Position | Effect | Experimental evidence |
|---|---|---|---|---|---|---|
| rs149342416 | NP_620572 | Non-synonymous | Arg-Ser | 6 | TODO | by freq |
| rs143662783 | NP_620575 | Non-synonymous | Thr-Ile | 17 | TODO | by freq |
| rs148161858 | NP_620578 | Non-synonymous | Arg-His | 23 | TODO | 1000Genome,freq,cluster |
| N/A | Q30201 | Non-synonymous | Arg-Leu | 26 | TODO | Not validated |
| rs2242956 | NP_620575 | Non-synonymous | Met-Thr | 35 | TODO | by cluster |
| N/A | Q30201 | Non-synonymous | Gly-Asp | 43 | TODO | Not validated |
| rs28934889 | NP_620578 | Non-synonymous | Val-Met | 53 | TODO | 1000Genome,freq,cluster |
| rs111033557 | NP_620578 | Non-synonymous | Val-Met | 59 | TODO | by cluster |
| rs1799945 | NP_000401 | Non-synonymous | His-Asp | 63 | TODO | 1000Genome,freq,cluster |
| rs1800730 | NP_620575 | Non-synonymous | Ser-Cys | 65 | TODO | 1000Genome,freq,cluster |
| N/A | Q30201 | Non-synonymous | Arg-Cys | 66 | TODO | Not validated |
| N/A | B990874 | Non-synonymous | Arg-Glu | 66 | TODO | Not validated |
| rs139523708 | NP_000401 | Non-synonymous | Arg-His | 67 | TODO | Not validated |
| rs28934597 | NP_620578 | Non-synonymous | Gly-Arg | 93 | TODO | by cluster |
| N/A | B990874 | Non-synonymous | Val-Ala | 100 | TODO | Not validated |
| N/A | A001949 | Non-synonymous | Trp-Ala | 103 | TODO | Not validated |
| rs28934596 | NP_620578 | Non-synonymous | Ile-Thr | 105 | TODO | by cluster |
| N/A | NP_000401 | Non-synonymous | Met-Thr | 106 | TODO | Not validated |
| rs28934595 | NP_000401 | Non-synonymous | Gln-His | 127 | TODO | by cluster |
| rs149662565 | NP_000401 | Non-synonymous | Pro-Thr | 160 | TODO | Not validated |
| rs145475682 | NP_620575 | Non-synonymous | Ala-Ser | 162 | TODO | by freq |
| N/A | B990874 | Non-synonymous | Trp-Ala | 163 | TODO | Not validated |
| rs144170531 | NP_620576 | Non-synonymous | Lys-Glu | 166 | TODO | by freq |
| rs146519482 | NP_000401 | Non-synonymous | Glu-Gln | 168 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Val | 176 | TODO | Not validated |
| N/A | NP_000401 | Non-synonymous | Leu-Pro | 183 | TODO | Not validated |
| N/A | B990874 | Non-synonymous | Pro-Val | 188 | TODO | Not validated |
| rs4986950 | NP_620576 | Non-synonymous | Thr-Ile | 217 | TODO | by cluster,freq |
| N/A | Q30201 | Non-synonymous | Arg-Gly | 224 | TODO | Not validated |
| rs144797937 | NP_620579 | Non-synonymous | Arg-Trp | 224 | TODO | by freq |
| rs62625346 | NP_620572 | Non-synonymous | Arg-Gln | 224 | TODO | by cluster,freq |
| N/A | Q30201 | Non-synonymous | Tyr-His | 230 | TODO | Not validated |
| rs140515012 | NP_000401 | Non-synonymous | Pro-Ala | 245 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Ala-Thr | 248 | TODO | Not validated |
| rs150402693 | NP_000401 | Non-synonymous | Phe-Leu | 251 | TODO | Not validated |
| rs138176635 | NP_000401 | Non-synonymous | Glu-Gly | 252 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Val-Ala | 256 | TODO | Not validated |
| rs143846467 | NP_000401 | Non-synonymous | Asn-Ser | 259 | TODO | Not validated |
| N/A | Q30201 | Non-synonymous | Gly-Glu | 275 | TODO | Not validated |
| rs140080192 | NP_620576 | Non-synonymous | Glu-Lys | 277 | TODO | 1000Genome,freq,cluster |
| rs1800562 | NP_620575 | Non-synonymous | Cys-Tyr | 282 | TODO | 1000Genome,freq,cluster |
| rs111033563 | NP_620573 | Non-synonymous | Gln-Pro | 283 | TODO | by cluster |
| rs143175221 | NP_000401 | Non-synonymous | Val-Ala | 295 | TODO | by freq |
| N/A | Q30201 | Non-synonymous | Ser-Arg | 311 | TODO | Not validated |
| rs147519426 | NP_000401 | Non-synonymous | Val-Gly | 315 | TODO | by freq |
| rs141229562 | NP_000401 | Non-synonymous | Val-Ile | 318 | TODO | Not validated |
| rs150716212 | NP_000401 | Non-synonymous | Ile-Thr | 322 | TODO | Not validated |
| rs138993448 | NP_000401 | Non-synonymous | Ile-Thr | 327 | TODO | Not validated |
| rs111033558 | NP_620578 | Non-synonymous | Arg-Met | 330 | TODO | by cluster |
| N/A | Q30201 | Non-synonymous | Met-Val | 339 | TODO | Not validated |
| rs146508927 | NP_000401 | Non-synonymous | Arg-His | 347 | TODO | by freq |
</figtable>
