Hemochromatosis ALL SNP TABLE

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Revision as of 18:13, 10 June 2012 by Bernhoferm (talk | contribs)

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Position Amino acid change HGMD/dbSNP ID
6 Arg-Ser CM032270,rs149342416
7 Pro-Pro rs114758821
17 Thr-Ile rs143662783
23 Arg-His rs148161858
26 Arg-Leu N/A
35 Met-Thr rs2242956
43 Gly-Asp N/A
53 Val-Met CM994469,rs28934889
58 Phe-Phe rs147297176
59 Val-Met CM994470,rs28934890,rs111033557
63 His-His HM971246,rs147426902
63 His-Asp CM960827,rs1799945
65 Ser-Cys CM990718,rs1800730
66 Arg-Cys CM033969
66 Arg-Glu N/A
67 Arg-His rs139523708
71 Arg-Term CM020721
76 Ser-Ser rs62625342
93 Gly-Arg CM990719,rs28934597
100 Val-Ala N/A
103 Trp-Ala N/A
105 Ile-Thr CM990720,rs28934596
106 Met-Thr N/A
127 Gln-His CM990721,rs28934595
160 Pro-Thr rs149662565
162 Ala-Ser rs145475682
162 Ala-Ala rs148480830
163 Trp-Ala N/A
166 Lys-Glu rs144170531
168 Glu-Gln CM004810,rs146519482
168 Glu-Term CM004106
169 Trp-Term CM004107
176 Ala-Val CM015326
183 Leu-Pro CM081301
188 Pro-Val N/A
192 Gln-Term rs140957442
217 Thr-Ile rs4986950
224 Arg-Gly N/A
224 Arg-Gln CM034097,rs62625346
224 Arg-Trp rs144797937
230 Tyr-His N/A
245 Pro-Ala rs140515012
248 Ala-Thr N/A
251 Phe-Leu rs150402693
252 Glu-Gly rs138176635
256 Val-Ala N/A
259 Asn-Ser rs143846467
272 Val-Leu CM024530
275 Gly-Glu N/A
277 Glu-Lys CM994771,rs140080192
282 Cys-Ser CM004391
282 Cys-Tyr CM960828,rs1800562
283 Gln-Pro CM032271,rs111033563
295 Val-Ala HM030028,rs143175221
298 Glu-Glu rs114038675
311 Ser-Arg N/A
315 Val-Val rs148632352
315 Val-Gly rs147519426
318 Val-Ile rs141229562
322 Ile-Thr rs150716212
327 Ile-Thr rs138993448
330 Arg-Met CM990722,rs111033558
339 Met-Val N/A
342 Tyr-Tyr rs35201683
342 Tyr-Term rs62625348
347 Arg-His rs146508927
Table 1: A list of all unique SNPs for HFE from HGMD, dbSNP, and SNPdbe.

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