Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
122
..
122
|
G/A |
rs12049010
|
+ |
5'UTR |
|
142
..
142
|
T/C |
rs4246525
|
+ |
5'UTR |
|
191
..
191
|
T/C |
rs11204797
|
+ |
5'UTR |
|
230
..
230
|
C/T |
rs150370392
|
+ |
5'UTR |
|
270
..
270
|
C/T |
rs200919214
|
+ |
5'UTR |
|
272
..
272
|
C/G |
rs115732752
|
+ |
5'UTR |
|
350
..
350
|
T/G |
rs7366902
|
+ |
5'UTR |
|
355
..
355
|
C/T |
rs193156608
|
+ |
5'UTR |
|
418
..
418
|
G/A |
rs138143572
|
+ |
5'UTR |
|
475
..
475
|
T/C |
rs184478967
|
+ |
5'UTR |
|
513
..
513
|
G/T |
rs143592052
|
+ |
5'UTR |
|
518
..
518
|
C/A |
rs112987276
|
+ |
5'UTR |
|
640
..
640
|
G/A |
rs111491799
|
+ |
5'UTR |
|
717
..
717
|
T/C |
rs116753436
|
+ |
5'UTR |
|
720
..
720
|
C/G |
rs186956006
|
+ |
5'UTR |
|
880
..
880
|
G/A |
rs57203597
|
+ |
5'UTR |
|
968
..
968
|
G/A |
rs199993225
|
+ |
5'UTR |
|
970
..
970
|
T/C |
rs149487980
|
+ |
5'UTR |
|
976
..
976
|
G/T |
rs41310867
|
+ |
CDS |
Synonymous[Gly2Gly] |
1045
..
1045
|
A/C |
rs138832237
|
+ |
CDS |
Nonsynonymous[Glu25Asp] |
1177
..
1177
|
C/T |
rs147442172
|
+ |
CDS |
Synonymous[Ala69Ala] |
1197
..
1197
|
C/T |
rs142824299
|
+ |
CDS |
Nonsynonymous[Pro76Leu] |
1219
..
1219
|
T/C |
rs139743519
|
+ |
CDS |
Synonymous[Ser83Ser] |
1246
..
1246
|
C/T |
rs2298265
|
- |
CDS |
Synonymous[Pro92Pro] |
1247
..
1247
|
G/A |
rs201463227
|
+ |
CDS |
Nonsynonymous[Glu93Lys] |
1285
..
1285
|
C/T |
rs202243324
|
+ |
CDS |
Synonymous[Asp105Asp] |
1309
^
1310
|
-/A |
rs34440501
|
+ |
CDS |
|
1316
..
1316
|
G/A/C |
rs112780836
|
+ |
CDS |
|
1323
..
1323
|
T/G |
rs200167838
|
+ |
CDS |
Nonsynonymous[Val118Gly] |
1371
..
1371
|
T/G |
rs200732440
|
+ |
CDS |
Nonsynonymous[Leu134Arg] |
1380
^
1381
|
-/C |
rs34659630
|
+ |
CDS |
|
1443
..
1443
|
C/G |
rs143427475
|
+ |
CDS |
Nonsynonymous[Thr158Ser] |
1495
..
1495
|
T/C |
rs2298264
|
- |
CDS |
Synonymous[Asp175Asp] |
1497
..
1497
|
C/T |
rs61739618
|
+ |
CDS |
Nonsynonymous[Pro176Leu] |
1544
..
1544
|
C/T |
rs145907313
|
+ |
CDS |
Nonsynonymous[Pro192Ser] |
1622
..
1622
|
T/C |
rs61744826
|
+ |
CDS |
Synonymous[Leu218Leu] |
1645
..
1645
|
C/G |
rs138073338
|
+ |
CDS |
Nonsynonymous[Ser225Arg] |
1654
..
1654
|
C/T |
rs144210894
|
+ |
CDS |
Synonymous[Pro228Pro] |
1707
..
1707
|
C/T |
rs142028969
|
+ |
CDS |
Nonsynonymous[Thr246Met] |
1746
..
1746
|
G/A |
rs3748545
|
+ |
CDS |
Nonsynonymous[Gly259Glu] |
1807
..
1807
|
C/T |
rs151093902
|
+ |
CDS |
Synonymous[Pro279Pro] |
1808
..
1808
|
G/A |
rs149852671
|
+ |
CDS |
Nonsynonymous[Val280Ile] |
1831
..
1831
|
A/T |
rs149043825
|
+ |
CDS |
Nonsynonymous[Glu287Asp] |
1869
..
1869
|
G/T |
rs147172634
|
+ |
CDS |
Nonsynonymous[Gly300Val] |
1874
..
1874
|
C/T |
rs199758489
|
+ |
CDS |
Nonsynonymous[Pro302Ser] |
1897
..
1897
|
C/T |
rs146975201
|
+ |
CDS |
Synonymous[Ala309Ala] |
1923
..
1923
|
A/G |
rs201815616
|
+ |
CDS |
Nonsynonymous[Asp318Gly] |
1933
..
1933
|
C/G |
rs201291674
|
+ |
CDS |
Synonymous[Ala321Ala] |
1936
..
1936
|
C/T |
rs3748546
|
+ |
CDS |
Synonymous[Ser322Ser] |
1948
..
1948
|
G/A |
rs141784082
|
+ |
CDS |
Synonymous[Arg326Arg] |
1987
..
1987
|
C/T |
rs141982116
|
+ |
CDS |
Synonymous[Cys339Cys] |
2001
..
2001
|
G/C |
rs12045766
|
+ |
CDS |
Nonsynonymous[Arg344Thr] |
2049
..
2049
|
C/T |
rs199952503
|
+ |
CDS |
Nonsynonymous[Ala360Val] |
2058
..
2058
|
C/T |
rs199776443
|
+ |
CDS |
Nonsynonymous[Ala363Val] |
2102
..
2102
|
C/T |
rs146309011
|
+ |
CDS |
Nonsynonymous[Pro378Ser] |
2131
..
2131
|
C/T |
rs201223589
|
+ |
CDS |
Synonymous[Ser387Ser] |
2221
..
2221
|
C/T |
rs200690530
|
+ |
CDS |
Synonymous[Ala417Ala] |
2257
..
2257
|
G/C |
rs142862333
|
+ |
CDS |
Synonymous[Gly429Gly] |
2290
..
2290
|
C/T |
rs113419726
|
+ |
CDS |
Synonymous[Asn440Asn] |
2314
..
2314
|
C/G |
rs140276689
|
+ |
CDS |
Synonymous[Ala448Ala] |
2333
..
2333
|
C/T |
rs144174264
|
+ |
CDS |
Nonsynonymous[Arg455Trp] |
2351
..
2351
|
G/C |
rs149906483
|
+ |
CDS |
Nonsynonymous[Gly461Arg] |
2443
..
2443
|
A/T |
rs144994348
|
+ |
CDS |
Synonymous[Ser491Ser] |
2488
..
2488
|
C/T |
rs143173486
|
+ |
CDS |
Synonymous[Asn506Asn] |
2515
..
2515
|
G/T |
rs140419514
|
+ |
CDS |
Nonsynonymous[Arg515Ser] |
2563
..
2563
|
C/A/T |
rs142842127
|
+ |
CDS |
|
2647
..
2647
|
C/T |
rs199980156
|
+ |
CDS |
Synonymous[Ile559Ile] |
2668
..
2668
|
C/T |
rs150653246
|
+ |
CDS |
Synonymous[Cys566Cys] |
2675
..
2675
|
C/T |
rs202052832
|
+ |
CDS |
Nonsynonymous[Arg569Cys] |
2677
..
2677
|
C/T |
rs201170717
|
+ |
CDS |
Synonymous[Arg569Arg] |
2694
..
2694
|
A/G |
rs144793597
|
+ |
CDS |
Nonsynonymous[Lys575Arg] |
2713
..
2713
|
T/C |
rs140159110
|
+ |
CDS |
Synonymous[His581His] |
2741
..
2741
|
G/A |
rs147341021
|
+ |
CDS |
Nonsynonymous[Val591Ile] |
2815
..
2815
|
G/A |
rs201084367
|
+ |
CDS |
Synonymous[Pro615Pro] |
2875
..
2875
|
G/A |
rs200318956
|
+ |
CDS |
Synonymous[Lys635Lys] |
2876
..
2876
|
G/A |
rs12745008
|
+ |
CDS |
Nonsynonymous[Gly636Ser] |
2884
..
2884
|
G/T |
rs149712193
|
+ |
CDS |
Synonymous[Gly638Gly] |
2890
..
2890
|
C/A |
rs145603153
|
+ |
CDS |
Synonymous[Ile640Ile] |
2893
..
2893
|
C/T |
rs199695196
|
+ |
CDS |
Synonymous[Thr641Thr] |
2918
..
2918
|
G/A |
rs138210991
|
+ |
CDS |
Nonsynonymous[Ala650Thr] |
2941
..
2941
|
C/T |
rs143281246
|
+ |
CDS |
Synonymous[Leu657Leu] |
2950
..
2950
|
G/A |
rs141479219
|
+ |
CDS |
Synonymous[Glu660Glu] |
2965
..
2965
|
G/A |
rs201050504
|
+ |
CDS |
Synonymous[Pro665Pro] |
2990
..
2990
|
C/T |
rs138697540
|
+ |
CDS |
Nonsynonymous[Arg674Cys] |
3076
..
3076
|
C/T |
rs144082195
|
+ |
CDS |
Synonymous[Ala702Ala] |
3120
..
3120
|
G/A |
rs201169436
|
+ |
CDS |
Nonsynonymous[Arg717His] |
3166
..
3166
|
C/G |
rs201573792
|
+ |
CDS |
Synonymous[Pro732Pro] |
3169
..
3169
|
T/C |
rs112548575
|
+ |
CDS |
Synonymous[His733His] |
3225
..
3225
|
G/A |
rs149247665
|
+ |
CDS |
Nonsynonymous[Arg752Gln] |
3293
..
3293
|
G/A |
rs147334222
|
+ |
CDS |
Nonsynonymous[Gly775Ser] |
3328
..
3328
|
G/T |
rs112048270
|
+ |
CDS |
Synonymous[Ser786Ser] |
3335
..
3335
|
G/T |
rs181555523
|
+ |
CDS |
AA-STOP[Glu789*] |
3394
..
3394
|
T/C |
rs111833417
|
+ |
CDS |
Synonymous[His808His] |
3400
..
3400
|
C/T |
rs200654117
|
+ |
CDS |
Synonymous[His810His] |
3427
..
3427
|
A/C |
rs115912410
|
+ |
CDS |
Nonsynonymous[Gln819His] |
3466
..
3466
|
C/T |
rs146722973
|
+ |
CDS |
Synonymous[Cys832Cys] |
3467
..
3467
|
G/A |
rs201036095
|
+ |
CDS |
Nonsynonymous[Asp833Asn] |
3508
..
3508
|
C/T |
rs200203393
|
+ |
CDS |
Synonymous[Phe846Phe] |
3623
..
3623
|
C/T |
rs201237841
|
+ |
CDS |
Nonsynonymous[Arg885Cys] |
3651
..
3651
|
C/T |
rs41270700
|
+ |
CDS |
Nonsynonymous[Ala894Val] |
3704
..
3704
|
C/A |
rs146527737
|
+ |
CDS |
Nonsynonymous[Gln912Lys] |
3780
..
3780
|
C/G |
rs148402804
|
+ |
CDS |
Nonsynonymous[Pro937Arg] |
3783
..
3783
|
C/A |
rs74472096
|
+ |
CDS |
Nonsynonymous[Pro938His] |
3806
..
3806
|
C/A |
rs61818002
|
+ |
CDS |
Synonymous[Arg946Arg] |
3871
..
3871
|
G/C |
rs199686732
|
+ |
CDS |
Synonymous[Leu967Leu] |
3895
..
3895
|
T/G |
rs201328316
|
+ |
CDS |
Synonymous[Arg975Arg] |
3904
..
3904
|
C/T |
rs150185392
|
+ |
CDS |
Synonymous[Tyr978Tyr] |
3920
..
3920
|
A/G |
rs200702265
|
+ |
CDS |
Nonsynonymous[Lys984Glu] |
3932
..
3932
|
A/G |
rs145709815
|
+ |
CDS |
Nonsynonymous[Lys988Glu] |
3957
..
3957
|
G/A |
rs147072139
|
+ |
CDS |
Nonsynonymous[Arg996His] |
3971
..
3971
|
T/C |
rs113388444
|
+ |
CDS |
Nonsynonymous[Ser1001Pro] |
3982
..
3982
|
C/T |
rs61743287
|
+ |
CDS |
Synonymous[Ser1004Ser] |
4003
..
4003
|
T/C |
rs181339557
|
+ |
CDS |
Synonymous[His1011His] |
4032
..
4032
|
G/A |
rs200135685
|
+ |
CDS |
Nonsynonymous[Arg1021Gln] |
4068
..
4068
|
G/A |
rs199981013
|
+ |
CDS |
Nonsynonymous[Arg1033His] |
4082
..
4082
|
C/T |
rs141578630
|
+ |
CDS |
Nonsynonymous[Arg1038Cys] |
4085
..
4085
|
C/G |
rs201848852
|
+ |
CDS |
Nonsynonymous[Leu1039Val] |
4113
..
4113
|
G/A |
rs201052012
|
+ |
CDS |
Nonsynonymous[Arg1048Gln] |
4117
..
4117
|
C/T |
rs61740560
|
+ |
CDS |
Synonymous[His1049His] |
4165
..
4165
|
T/C |
rs149270527
|
+ |
CDS |
Synonymous[Ala1065Ala] |
4166
..
4166
|
C/T |
rs60042414
|
+ |
CDS |
Nonsynonymous[Arg1066Trp] |
4168
..
4168
|
G/A |
rs200446513
|
+ |
CDS |
Synonymous[Arg1066Arg] |
4185
..
4185
|
C/G |
rs139287742
|
+ |
CDS |
Nonsynonymous[Ala1072Gly] |
4208
..
4208
|
C/T |
rs148677920
|
+ |
CDS |
Nonsynonymous[Arg1080Cys] |
4225
..
4225
|
T/C |
rs140518195
|
+ |
CDS |
Synonymous[Ser1085Ser] |
4237
..
4237
|
G/C |
rs199499467
|
+ |
CDS |
Nonsynonymous[Glu1089Asp] |
4249
..
4249
|
G/A |
rs201368023
|
+ |
CDS |
Synonymous[Thr1093Thr] |
4253
..
4253
|
C/G |
rs140469369
|
+ |
CDS |
Nonsynonymous[Pro1095Ala] |
4269
..
4269
|
C/T |
rs147685225
|
+ |
CDS |
Nonsynonymous[Pro1100Leu] |
4297
..
4297
|
T/C |
rs146670033
|
+ |
CDS |
Synonymous[His1109His] |
4307
..
4307
|
C/T |
rs191061324
|
+ |
CDS |
Nonsynonymous[Arg1113Cys] |
4308
..
4308
|
G/A |
rs200803627
|
+ |
CDS |
Nonsynonymous[Arg1113His] |
4314
..
4314
|
G/A |
rs79366406
|
+ |
CDS |
Nonsynonymous[Arg1115Gln] |
4321
..
4321
|
C/T |
rs146187071
|
+ |
CDS |
Synonymous[Ser1117Ser] |
4396
..
4396
|
G/C/T |
rs77014701
|
+ |
CDS |
|
4405
..
4405
|
C/T |
rs142457404
|
+ |
CDS |
Synonymous[Ala1145Ala] |
4413
..
4413
|
G/C |
rs199591007
|
+ |
CDS |
Nonsynonymous[Gly1148Ala] |
4425
..
4425
|
G/A |
rs202109433
|
+ |
CDS |
Nonsynonymous[Arg1152Gln] |
4430
..
4430
|
C/T |
rs139589523
|
+ |
CDS |
Nonsynonymous[Arg1154Cys] |
4431
..
4431
|
G/A |
rs3748547
|
+ |
CDS |
Nonsynonymous[Arg1154His] |
4440
..
4440
|
G/C |
rs61743510
|
+ |
CDS |
Nonsynonymous[Ser1157Thr] |
4455
..
4455
|
G/A |
rs144644921
|
+ |
CDS |
Nonsynonymous[Arg1162Gln] |
4457
..
4457
|
G/C |
rs145336478
|
+ |
CDS |
Nonsynonymous[Gly1163Arg] |
4512
..
4512
|
C/T |
rs142390832
|
+ |
CDS |
Nonsynonymous[Pro1181Leu] |
4529
..
4529
|
G/A |
rs151299620
|
+ |
CDS |
Nonsynonymous[Asp1187Asn] |
4597
..
4597
|
C/T |
rs150478719
|
+ |
CDS |
Synonymous[Cys1209Cys] |
4600
..
4600
|
C/T |
rs141449018
|
+ |
CDS |
Synonymous[Asp1210Asp] |
4630
..
4630
|
C/A |
rs150008709
|
+ |
CDS |
Synonymous[Arg1220Arg] |
4645
..
4645
|
G/A |
rs137887486
|
+ |
CDS |
Synonymous[Ala1225Ala] |
4658
..
4658
|
C/T |
rs143979840
|
+ |
CDS |
Nonsynonymous[Arg1230Trp] |
4676
^
4677
|
-/ACA |
rs145032688
|
+ |
CDS |
|
4694
..
4694
|
C/G |
rs76680844
|
+ |
3'UTR |
|
4781
..
4781
|
G/A |
rs10788803
|
+ |
3'UTR |
|
4796
..
4796
|
C/T |
rs145209516
|
+ |
3'UTR |
|
4819
..
4819
|
A/C |
rs149133961
|
+ |
3'UTR |
|
4826
..
4826
|
T/C |
rs183646760
|
+ |
3'UTR |
|
4925
..
4925
|
T/C |
rs202108686
|
+ |
3'UTR |
|
5046
..
5046
|
C/G |
rs187358374
|
+ |
3'UTR |
|
5089
..
5089
|
C/T |
rs145401314
|
+ |
3'UTR |
|
5132
..
5132
|
C/T |
rs3811407
|
+ |
3'UTR |
|
5303
..
5303
|
G/A |
rs192078842
|
+ |
3'UTR |
|
5329
..
5329
|
G/C |
rs111238381
|
+ |
3'UTR |
|
5360
^
5361
|
-/TGTT |
rs142097997
|
+ |
3'UTR |
|