Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
39
..
39
|
C/T |
rs183675069
|
+ |
5'UTR |
|
71
..
71
|
G/T |
rs12756225
|
+ |
CDS |
Nonsynonymous[Ala6Ser] |
106
..
106
|
A/G |
rs187389379
|
+ |
CDS |
Synonymous[Gln17Gln] |
139
..
139
|
C/T |
rs149264713
|
+ |
CDS |
Synonymous[Pro28Pro] |
150
..
150
|
C/T |
rs112657356
|
+ |
CDS |
Nonsynonymous[Thr32Ile] |
193
..
193
|
C/T |
rs201755087
|
+ |
CDS |
Synonymous[Asn46Asn] |
246
..
246
|
C/T |
rs10732273
|
+ |
CDS |
Nonsynonymous[Pro64Leu] |
247
..
247
|
G/A |
rs200026948
|
+ |
CDS |
Synonymous[Pro64Pro] |
252
..
252
|
C/T |
rs200657202
|
+ |
CDS |
Nonsynonymous[Ala66Val] |
294
..
294
|
C/G |
rs201907347
|
+ |
CDS |
Nonsynonymous[Pro80Arg] |
352
..
352
|
G/A |
rs200763427
|
+ |
CDS |
Synonymous[Gln99Gln] |
406
..
406
|
A/G |
rs190608612
|
+ |
CDS |
Synonymous[Gln117Gln] |
413
..
413
|
C/T |
rs201123018
|
+ |
CDS |
AA-STOP[Arg120*] |
502
..
502
|
T/C |
rs200063298
|
+ |
CDS |
Synonymous[Asp149Asp] |
514
..
514
|
C/T |
rs200317123
|
+ |
CDS |
Synonymous[Asp153Asp] |
515
..
515
|
G/A |
rs183595049
|
+ |
CDS |
Nonsynonymous[Gly154Ser] |
570
..
570
|
C/T |
rs200901437
|
+ |
CDS |
Nonsynonymous[Pro172Leu] |
584
..
584
|
C/T |
rs202038677
|
+ |
CDS |
Nonsynonymous[Arg177Cys] |
657
..
657
|
C/T |
rs199998538
|
+ |
CDS |
Nonsynonymous[Pro201Leu] |
658
..
658
|
G/A |
rs74133667
|
+ |
CDS |
Synonymous[Pro201Pro] |
690
..
690
|
C/T |
rs114348822
|
+ |
CDS |
Nonsynonymous[Pro212Leu] |
695
..
695
|
C/T |
rs3747959
|
- |
CDS |
Nonsynonymous[His214Tyr] |
709
..
709
|
C/T |
rs12082445
|
+ |
CDS |
Synonymous[Pro218Pro] |
725
..
725
|
C/T |
rs201707736
|
+ |
CDS |
Nonsynonymous[Pro224Ser] |
829
..
829
|
C/T |
rs202029251
|
+ |
CDS |
Synonymous[Ser258Ser] |
855
..
855
|
C/T |
rs61811250
|
+ |
CDS |
Nonsynonymous[Pro267Leu] |
879
..
879
|
G/A |
rs77981586
|
+ |
CDS |
Nonsynonymous[Arg275His] |
942
..
942
|
G/A |
rs201745892
|
+ |
CDS |
Nonsynonymous[Arg296Gln] |
956
..
956
|
C/T |
rs79485039
|
+ |
CDS |
Nonsynonymous[Arg301Cys] |
957
..
957
|
G/A |
rs200280666
|
+ |
CDS |
Nonsynonymous[Arg301His] |
978
..
978
|
T/A |
rs200432155
|
+ |
CDS |
Nonsynonymous[Leu308His] |
1001
..
1001
|
C/T |
rs201390442
|
+ |
CDS |
Nonsynonymous[Arg316Cys] |
1002
..
1002
|
G/A |
rs77550702
|
+ |
CDS |
Nonsynonymous[Arg316His] |
1032
..
1032
|
C/T |
rs77695365
|
+ |
CDS |
Nonsynonymous[Ser326Phe] |
1056
..
1056
|
G/A |
rs201506771
|
+ |
CDS |
Nonsynonymous[Arg334Gln] |
1100
..
1100
|
G/A |
rs200852158
|
+ |
CDS |
Nonsynonymous[Asp349Asn] |
1106
..
1106
|
G/A |
rs200591163
|
+ |
CDS |
Nonsynonymous[Gly351Ser] |
1120
..
1120
|
T/C |
rs3747958
|
- |
CDS |
Synonymous[Thr355Thr] |
1138
..
1138
|
G/A |
rs184914756
|
+ |
CDS |
Synonymous[Glu361Glu] |
1185
..
1185
|
G/A |
rs140222211
|
+ |
CDS |
Nonsynonymous[Arg377His] |
1191
..
1191
|
G/A |
rs111709771
|
+ |
CDS |
Nonsynonymous[Arg379His] |
1234
..
1234
|
C/T |
rs147681091
|
+ |
CDS |
Synonymous[Ile393Ile] |
1235
..
1235
|
G/A |
rs201202855
|
+ |
CDS |
Nonsynonymous[Val394Met] |
1259
..
1259
|
C/T |
rs150309236
|
+ |
CDS |
AA-STOP[Arg402*] |
1260
..
1260
|
G/A |
rs201563384
|
+ |
CDS |
Nonsynonymous[Arg402Gln] |
1372
..
1372
|
C/T |
rs200615371
|
+ |
CDS |
Synonymous[His439His] |
1377
..
1377
|
C/T |
rs144390511
|
+ |
CDS |
Nonsynonymous[Pro441Leu] |
1433
..
1433
|
G/A |
rs200055814
|
+ |
CDS |
Nonsynonymous[Ala460Thr] |
1598
..
1598
|
C/T |
rs201310531
|
+ |
CDS |
Nonsynonymous[Leu515Phe] |
1707
..
1707
|
G/A |
rs146608925
|
+ |
CDS |
Nonsynonymous[Gly551Glu] |
1724
..
1724
|
C/T |
rs200728905
|
+ |
CDS |
Nonsynonymous[Pro557Ser] |
1760
..
1760
|
A/C |
rs201379780
|
+ |
CDS |
Nonsynonymous[Met569Leu] |
1793
..
1793
|
C/T |
rs201731426
|
+ |
CDS |
Nonsynonymous[Leu580Phe] |
1809
..
1809
|
C/T |
rs200812904
|
+ |
CDS |
Nonsynonymous[Ala585Val] |
1877
..
1877
|
G/C |
rs139066333
|
+ |
CDS |
Nonsynonymous[Val608Leu] |
1878
..
1878
|
T/C |
rs200170063
|
+ |
CDS |
Nonsynonymous[Val608Ala] |
1915
..
1915
|
C/T |
rs192741655
|
+ |
CDS |
Synonymous[Asn620Asn] |
1931
..
1931
|
G/C |
rs182446414
|
+ |
CDS |
Nonsynonymous[Glu626Gln] |
1934
..
1934
|
G/A |
rs202196321
|
+ |
CDS |
Nonsynonymous[Glu627Lys] |
1961
..
1961
|
G/A |
rs188274594
|
+ |
CDS |
Nonsynonymous[Ala636Thr] |
1962
..
1962
|
C/T |
rs113108579
|
+ |
CDS |
Nonsynonymous[Ala636Val] |
2066
..
2066
|
C/T |
rs149910072
|
+ |
CDS |
Nonsynonymous[Leu671Phe] |
2122
..
2122
|
G/A |
rs56104489
|
+ |
CDS |
Synonymous[Val689Val] |
2273
..
2273
|
C/T |
rs17302207
|
+ |
CDS |
Nonsynonymous[Arg740Trp] |
2304
..
2304
|
C/T |
rs79791475
|
+ |
CDS |
Nonsynonymous[Thr750Ile] |
2317
..
2317
|
G/T |
rs201220751
|
+ |
CDS |
Synonymous[Thr754Thr] |
2354
..
2354
|
A/G |
rs144874037
|
+ |
CDS |
Nonsynonymous[Thr767Ala] |
2362
..
2362
|
T/C |
rs3795505
|
- |
CDS |
Synonymous[Ser769Ser] |
2387
..
2387
|
C/T |
rs200156750
|
+ |
CDS |
Nonsynonymous[Pro778Ser] |
2433
..
2433
|
A/C |
rs114151345
|
+ |
CDS |
Nonsynonymous[Gln793Pro] |
2458
..
2458
|
T/G |
rs3795504
|
- |
CDS |
Nonsynonymous[Phe801Leu] |
2482
..
2482
|
C/T |
rs192554753
|
+ |
CDS |
Synonymous[Thr809Thr] |
2628
..
2628
|
C/T |
rs201792192
|
+ |
CDS |
Nonsynonymous[Pro858Leu] |
2651
..
2651
|
C/T |
rs200245151
|
+ |
CDS |
Nonsynonymous[Arg866Cys] |
2704
..
2704
|
C/T |
rs3795503
|
- |
CDS |
Synonymous[Asn883Asn] |
2749
..
2749
|
C/T |
rs199668431
|
+ |
CDS |
Synonymous[His898His] |
2800
..
2800
|
G/C |
rs201348973
|
+ |
CDS |
Synonymous[Leu915Leu] |
2869
..
2869
|
G/A |
rs200033632
|
+ |
CDS |
Synonymous[Thr938Thr] |
2957
..
2957
|
G/A |
rs200646040
|
+ |
CDS |
Nonsynonymous[Gly968Arg] |
2993
..
2993
|
A/G |
rs201945338
|
+ |
CDS |
Nonsynonymous[Thr980Ala] |
3055
..
3055
|
A/G |
rs201536429
|
+ |
CDS |
Nonsynonymous[Ile1000Met] |
3089
..
3089
|
G/A |
rs182637463
|
+ |
CDS |
Nonsynonymous[Ala1012Thr] |
3157
..
3157
|
C/T |
rs186953945
|
+ |
CDS |
Synonymous[Pro1034Pro] |
3162
..
3162
|
C/T |
rs199548006
|
+ |
CDS |
Nonsynonymous[Pro1036Leu] |
3190
..
3190
|
C/A |
rs144194721
|
+ |
CDS |
Synonymous[Ala1045Ala] |
3214
..
3214
|
G/A |
rs200460542
|
+ |
CDS |
Synonymous[Pro1053Pro] |
3234
..
3234
|
G/A |
rs201368205
|
+ |
CDS |
Nonsynonymous[Arg1060His] |
3287
..
3287
|
G/A |
rs2331995
|
+ |
CDS |
Nonsynonymous[Asp1078Asn] |
3357
..
3357
|
C/T |
rs116827264
|
+ |
CDS |
Nonsynonymous[Ser1101Leu] |
3384
..
3384
|
A/G |
rs140904251
|
+ |
CDS |
Nonsynonymous[Asp1110Gly] |
3386
..
3386
|
G/A |
rs187093177
|
+ |
CDS |
Nonsynonymous[Val1111Met] |
3409
..
3409
|
C/T |
rs200225289
|
+ |
CDS |
Synonymous[Arg1118Arg] |
3424
^
3425
|
-/G |
rs35620345
|
+ |
CDS |
|
3438
..
3438
|
C/T |
rs199791116
|
+ |
CDS |
Nonsynonymous[Pro1128Leu] |
3442
..
3442
|
C/T |
rs149708476
|
+ |
CDS |
Synonymous[Asp1129Asp] |
3443
..
3443
|
G/A |
rs201859148
|
+ |
CDS |
Nonsynonymous[Gly1130Ser] |
3566
..
3566
|
G/A |
rs145566296
|
+ |
CDS |
Nonsynonymous[Gly1171Ser] |
3631
..
3631
|
C/T |
rs202098581
|
+ |
3'UTR |
|
3771
..
3771
|
G/A |
rs79222060
|
+ |
3'UTR |
|
3838
..
3838
|
A/G |
rs140582955
|
+ |
3'UTR |
|
3863
..
3863
|
G/A |
rs11588523
|
+ |
3'UTR |
|
3870
..
3870
|
T/C |
rs12023606
|
+ |
3'UTR |
|
3911
..
3911
|
G/A |
rs116509877
|
+ |
3'UTR |
|
3943
..
3943
|
G/A |
rs111967847
|
+ |
3'UTR |
|
4003
..
4003
|
C/G |
rs10157421
|
+ |
3'UTR |
|