Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
25
..
25
|
G/A |
rs201502371
|
+ |
CDS |
Nonsynonymous[Gly9Ser] |
27
..
27
|
C/T |
rs192851961
|
+ |
CDS |
Synonymous[Gly9Gly] |
28
..
28
|
G/A |
rs200246798
|
+ |
CDS |
Nonsynonymous[Gly10Ser] |
91
..
91
|
T/A |
rs138492067
|
+ |
CDS |
Nonsynonymous[Cys31Ser] |
93
..
93
|
C/T |
rs201858623
|
+ |
CDS |
Synonymous[Cys31Cys] |
94
..
94
|
G/A |
rs78416612
|
+ |
CDS |
Nonsynonymous[Ala32Thr] |
102
..
102
|
C/T |
rs199810949
|
+ |
CDS |
Synonymous[His34His] |
103
..
103
|
G/A |
rs144303779
|
+ |
CDS |
Nonsynonymous[Glu35Lys] |
105
..
105
|
G/A |
rs201529692
|
+ |
CDS |
Synonymous[Glu35Glu] |
119
..
119
|
G/A |
rs187115817
|
+ |
CDS |
Nonsynonymous[Arg40Gln] |
122
..
122
|
G/A |
rs200833725
|
+ |
CDS |
Nonsynonymous[Arg41His] |
132
..
132
|
A/G |
rs200994103
|
+ |
CDS |
Synonymous[Thr44Thr] |
135
..
135
|
G/A |
rs148741292
|
+ |
CDS |
AA-STOP[Trp45*] |
152
..
152
|
G/T |
rs142296368
|
+ |
CDS |
Nonsynonymous[Arg51Met] |
165
..
165
|
C/T |
rs140846436
|
+ |
CDS |
Synonymous[Tyr55Tyr] |
171
..
171
|
G/A |
rs149715860
|
+ |
CDS |
Synonymous[Leu57Leu] |
201
..
201
|
C/A |
rs141907499
|
+ |
CDS |
Synonymous[Ile67Ile] |
202
..
202
|
G/A |
rs148849830
|
+ |
CDS |
Nonsynonymous[Val68Ile] |
204
..
204
|
C/T |
rs9626247
|
+ |
CDS |
Synonymous[Val68Val] |
206
..
206
|
A/G |
rs146945151
|
+ |
CDS |
Nonsynonymous[Tyr69Cys] |
210
..
210
|
C/T |
rs137919354
|
+ |
CDS |
Synonymous[Phe70Phe] |
223
..
223
|
A/T |
rs141930874
|
+ |
CDS |
Nonsynonymous[Asn75Tyr] |
229
..
229
|
C/T |
rs6007304
|
+ |
CDS |
Nonsynonymous[Arg77Trp] |
230
..
230
|
G/A |
rs116110380
|
+ |
CDS |
Nonsynonymous[Arg77Gln] |
261
..
261
|
C/T |
rs200183405
|
+ |
CDS |
Synonymous[Ser87Ser] |
264
..
264
|
A/G |
rs200981266
|
+ |
CDS |
Synonymous[Ala88Ala] |
277
..
277
|
G/C |
rs148162583
|
+ |
CDS |
Nonsynonymous[Asp93His] |
300
..
300
|
G/T |
rs201867796
|
+ |
CDS |
Nonsynonymous[Leu100Phe] |
366
..
366
|
C/T |
rs118109157
|
+ |
CDS |
Synonymous[Leu122Leu] |
371
..
371
|
G/A |
rs141967957
|
+ |
CDS |
Nonsynonymous[Ser124Asn] |
398
..
398
|
A/G |
rs201467717
|
+ |
CDS |
Nonsynonymous[Tyr133Cys] |
399
..
399
|
T/C |
rs150665424
|
+ |
CDS |
Synonymous[Tyr133Tyr] |
407
..
407
|
A/G |
rs16992915
|
+ |
CDS |
Nonsynonymous[Tyr136Cys] |
423
..
423
|
C/G |
rs142047597
|
+ |
CDS |
Nonsynonymous[His141Gln] |
439
..
439
|
G/T |
rs115109750
|
+ |
CDS |
Nonsynonymous[Asp147Tyr] |
460
..
460
|
G/A |
rs55849456
|
+ |
CDS |
Nonsynonymous[Glu154Lys] |
474
..
474
|
C/T |
rs144191237
|
+ |
CDS |
Synonymous[Tyr158Tyr] |
506
..
506
|
G/A |
rs117749664
|
+ |
CDS |
Nonsynonymous[Arg169Gln] |
509
..
509
|
C/T |
rs146040774
|
+ |
CDS |
Nonsynonymous[Thr170Met] |
512
..
512
|
C/T |
rs74393756
|
+ |
CDS |
Nonsynonymous[Pro171Leu] |
531
..
531
|
A/T |
rs3209476
|
+ |
CDS |
Synonymous[Pro177Pro] |
534
..
534
|
G/A |
rs151197082
|
+ |
CDS |
Synonymous[Pro178Pro] |
561
^
562
|
-/T |
rs34702238
|
+ |
CDS |
|
568
..
568
|
G/A |
rs140257857
|
+ |
CDS |
Nonsynonymous[Val190Ile] |
607
..
607
|
C/T |
rs145150063
|
+ |
CDS |
Nonsynonymous[Leu203Phe] |
612
..
612
|
C/A |
rs147582478
|
+ |
CDS |
Synonymous[Ile204Ile] |
617
..
617
|
C/A |
rs141993522
|
+ |
CDS |
Nonsynonymous[Pro206His] |
632
..
632
|
C/T |
rs145755215
|
+ |
CDS |
Nonsynonymous[Thr211Ile] |
638
..
638
|
C/T |
rs145431642
|
+ |
CDS |
Nonsynonymous[Thr213Met] |
639
..
639
|
G/A |
rs146372974
|
+ |
CDS |
Synonymous[Thr213Thr] |
642
..
642
|
C/T |
rs200724454
|
+ |
CDS |
Synonymous[Tyr214Tyr] |
649
..
649
|
G/T |
rs201724810
|
+ |
CDS |
AA-STOP[Glu217*] |
656
..
656
|
G/T |
rs143372796
|
+ |
CDS |
Nonsynonymous[Gly219Val] |
662
..
662
|
G/A |
rs148354622
|
+ |
CDS |
Nonsynonymous[Arg221His] |
666
..
666
|
C/T |
rs142113633
|
+ |
CDS |
Synonymous[Thr222Thr] |
699
..
699
|
G/C |
rs145723385
|
+ |
CDS |
Nonsynonymous[Gln233His] |
702
..
702
|
C/T |
rs141546662
|
+ |
CDS |
Synonymous[Thr234Thr] |
703
..
703
|
G/A |
rs200649519
|
+ |
CDS |
Nonsynonymous[Val235Ile] |
707
..
707
|
G/A |
rs138302998
|
+ |
CDS |
Nonsynonymous[Arg236His] |
717
..
717
|
G/A |
rs146192709
|
+ |
CDS |
Synonymous[Gln239Gln] |
723
..
723
|
C/A |
rs139004299
|
+ |
CDS |
Synonymous[Leu241Leu] |
725
..
725
|
A/G |
rs200597792
|
+ |
CDS |
Nonsynonymous[Tyr242Cys] |
741
..
741
|
C/T |
rs202116130
|
+ |
CDS |
Synonymous[Pro247Pro] |
742
..
742
|
G/A |
rs112956019
|
+ |
CDS |
Nonsynonymous[Val248Met] |
753
..
753
|
C/T |
rs142806387
|
+ |
CDS |
Synonymous[Asp251Asp] |
760
..
760
|
G/A |
rs150614994
|
+ |
CDS |
Nonsynonymous[Gly254Arg] |
785
..
785
|
T/C |
rs201957969
|
+ |
CDS |
Nonsynonymous[Ile262Thr] |
816
..
816
|
G/A |
rs5766097
|
+ |
CDS |
Synonymous[Gln272Gln] |
835
..
835
|
G/T |
rs139669165
|
+ |
CDS |
Nonsynonymous[Ala279Ser] |
841
..
841
|
G/A |
rs149327155
|
+ |
CDS |
Nonsynonymous[Glu281Lys] |
848
..
848
|
T/C |
rs200017589
|
+ |
CDS |
Nonsynonymous[Ile283Thr] |
852
..
852
|
T/C |
rs2269543
|
+ |
CDS |
Synonymous[Leu284Leu] |
868
..
868
|
G/T |
rs145217268
|
+ |
CDS |
AA-STOP[Glu290*] |
870
..
870
|
G/A |
rs147598722
|
+ |
CDS |
Synonymous[Glu290Glu] |
871
..
871
|
A/C |
rs140395831
|
+ |
CDS |
Nonsynonymous[Ser291Arg] |
875
..
875
|
G/A |
rs9626584
|
+ |
CDS |
Nonsynonymous[Ser292Asn] |
876
..
876
|
C/A |
rs144257107
|
+ |
CDS |
Nonsynonymous[Ser292Arg] |
880
..
880
|
C/T |
rs9626585
|
+ |
CDS |
Nonsynonymous[Arg294Cys] |
881
..
881
|
G/C |
rs140056752
|
+ |
CDS |
Nonsynonymous[Arg294Pro] |
882
..
882
|
T/C |
rs61756769
|
+ |
CDS |
Synonymous[Arg294Arg] |
883
..
883
|
G/C |
rs145855380
|
+ |
CDS |
Nonsynonymous[Val295Leu] |
889
..
889
|
G/C |
rs6007344
|
+ |
CDS |
Nonsynonymous[Gly297Arg] |
891
..
891
|
C/A/T |
rs145786855
|
+ |
CDS |
|
894
..
894
|
C/T |
rs138369158
|
+ |
CDS |
Synonymous[Cys298Cys] |
895
..
895
|
C/T |
rs200062058
|
+ |
CDS |
Nonsynonymous[Arg299Cys] |
896
..
896
|
G/T |
rs78823624
|
+ |
CDS |
Nonsynonymous[Arg299Leu] |
907
..
907
|
C/T |
rs114279873
|
+ |
CDS |
Nonsynonymous[Arg303Trp] |
908
..
908
|
G/A |
rs148303608
|
+ |
CDS |
Nonsynonymous[Arg303Gln] |
914
..
914
|
T/C/G |
rs141400807
|
+ |
CDS |
|
915
..
915
|
C/G/T |
rs150730726
|
+ |
CDS |
|
918
..
918
|
A/G |
rs201355529
|
+ |
CDS |
Synonymous[Pro306Pro] |
929
..
929
|
A/G |
rs139756068
|
+ |
CDS |
Nonsynonymous[Tyr310Cys] |
930
..
930
|
C/T |
rs143673989
|
+ |
CDS |
Synonymous[Tyr310Tyr] |
931
..
931
|
G/A |
rs147192731
|
+ |
CDS |
Nonsynonymous[Val311Ile] |
933
..
933
|
C/A/T |
rs76285641
|
+ |
CDS |
|
934
..
934
|
G/A |
rs149696716
|
+ |
CDS |
Nonsynonymous[Val312Ile] |
936
..
936
|
C/G |
rs145497248
|
+ |
CDS |
Synonymous[Val312Val] |
937
..
937
|
C/T |
rs148409922
|
+ |
CDS |
Nonsynonymous[Leu313Phe] |
939
..
939
|
C/A/T |
rs201042184
|
+ |
CDS |
|
940
..
940
|
C/T |
rs73176189
|
+ |
CDS |
Nonsynonymous[Arg314Cys] |
941
..
941
|
G/T |
rs149853709
|
+ |
CDS |
Nonsynonymous[Arg314Leu] |
945
..
945
|
C/T |
rs140715563
|
+ |
CDS |
Synonymous[Tyr315Tyr] |
950
..
950
|
T/G |
rs201123123
|
+ |
CDS |
Nonsynonymous[Met317Arg] |
963
..
963
|
T/C |
rs183140201
|
+ |
CDS |
Synonymous[His321His] |
965
..
965
|
C/T |
rs111862398
|
+ |
CDS |
Nonsynonymous[Ala322Val] |
966
..
966
|
G/A/T |
rs76060959
|
+ |
CDS |
|
972
..
972
|
C/G/T |
rs141333303
|
+ |
CDS |
|
973
..
973
|
C/T |
rs150225391
|
+ |
CDS |
Nonsynonymous[Arg325Trp] |
974
..
974
|
G/A |
rs77740333
|
+ |
CDS |
Nonsynonymous[Arg325Gln] |
980
..
980
|
G/A |
rs148939053
|
+ |
CDS |
Nonsynonymous[Ser327Asn] |
999
..
999
|
C/G |
rs200471258
|
+ |
CDS |
Nonsynonymous[Asn333Lys] |
1004
..
1004
|
C/T |
rs143652701
|
+ |
CDS |
Nonsynonymous[Ser335Phe] |
1005
..
1005
|
T/G |
rs138244204
|
+ |
CDS |
Synonymous[Ser335Ser] |
1023
..
1023
|
C/T |
rs199552344
|
+ |
CDS |
Synonymous[Phe341Phe] |
1024
..
1024
|
G/C |
rs199958233
|
+ |
CDS |
Nonsynonymous[Gly342Arg] |
1031
..
1031
|
A/C |
rs201566003
|
+ |
CDS |
Nonsynonymous[Asn344Thr] |
1045
..
1045
|
T/G |
rs200531866
|
+ |
CDS |
Nonsynonymous[Ser349Ala] |
1046
..
1046
|
C/G/T |
rs143738031
|
+ |
CDS |
|
1052
..
1052
|
G/A |
rs147209719
|
+ |
CDS |
Nonsynonymous[Gly351Glu] |
1054
..
1054
|
G/C |
rs138849948
|
+ |
CDS |
Nonsynonymous[Val352Leu] |
1055
..
1055
|
T/C |
rs111961247
|
+ |
CDS |
Nonsynonymous[Val352Ala] |
1056
..
1056
|
C/T |
rs141245253
|
+ |
CDS |
Synonymous[Val352Val] |
1065
..
1065
|
G/A |
rs185083480
|
+ |
CDS |
Synonymous[Leu355Leu] |
1072
..
1072
|
C/A |
rs150754629
|
+ |
CDS |
Nonsynonymous[Leu358Ile] |
1073
..
1073
|
T/C |
rs139089009
|
+ |
CDS |
Nonsynonymous[Leu358Pro] |
1077
..
1077
|
G/C |
rs200143785
|
+ |
CDS |
Synonymous[Val359Val] |
1096
..
1096
|
G/C |
rs41278887
|
+ |
CDS |
Nonsynonymous[Glu366Gln] |
1099
..
1099
|
C/A |
rs200703595
|
+ |
CDS |
Nonsynonymous[Leu367Met] |
1101
..
1101
|
G/A |
rs145940708
|
+ |
CDS |
Synonymous[Leu367Leu] |
1104
..
1104
|
G/A |
rs13405
|
+ |
CDS |
Synonymous[Leu368Leu] |
1107
..
1107
|
C/A/G |
rs149982577
|
+ |
CDS |
|
1108
..
1108
|
G/A |
rs144526462
|
+ |
CDS |
Nonsynonymous[Glu370Lys] |
1128
..
1128
|
C/T |
rs146628406
|
+ |
CDS |
Synonymous[Phe376Phe] |
1136
..
1136
|
C/T |
rs2071762
|
+ |
CDS |
Nonsynonymous[Pro379Leu] |
1137
..
1137
|
G/A |
rs147677675
|
+ |
CDS |
Synonymous[Pro379Pro] |
1140
..
1140
|
G/C |
rs142398288
|
+ |
CDS |
Nonsynonymous[Glu380Asp] |
1145
..
1145
|
C/G |
rs9614957
|
+ |
CDS |
Nonsynonymous[Pro382Arg] |
1147
..
1147
|
G/T |
rs140498858
|
+ |
CDS |
Nonsynonymous[Gly383Trp] |
1152
..
1152
|
G/C |
rs150417644
|
+ |
CDS |
Nonsynonymous[Glu384Asp] |
1155
..
1155
|
C/T |
rs41278889
|
+ |
CDS |
Synonymous[His385His] |
1156
..
1156
|
G/A |
rs140567858
|
+ |
CDS |
Nonsynonymous[Gly386Ser] |
1161
..
1161
|
G/A |
rs193014413
|
+ |
CDS |
Synonymous[Leu387Leu] |
1171
..
1171
|
G/C |
rs202125480
|
+ |
CDS |
Nonsynonymous[Glu391Gln] |
1185
..
1185
|
G/C |
rs41278891
|
+ |
CDS |
Nonsynonymous[Arg395Ser] |
1203
..
1203
|
G/C |
rs138911000
|
+ |
CDS |
Nonsynonymous[Glu401Asp] |
1210
..
1210
|
C/T |
rs201182751
|
+ |
CDS |
Nonsynonymous[Pro404Ser] |
1213
..
1213
|
C/T |
rs147816304
|
+ |
CDS |
Nonsynonymous[Arg405Trp] |
1214
..
1214
|
G/A |
rs144546780
|
+ |
CDS |
Nonsynonymous[Arg405Gln] |
1220
..
1220
|
A/C |
rs201933315
|
+ |
CDS |
Nonsynonymous[Gln407Pro] |
1226
..
1226
|
C/T |
rs148880070
|
+ |
CDS |
Nonsynonymous[Thr409Met] |
1229
..
1229
|
G/A |
rs141688811
|
+ |
CDS |
Nonsynonymous[Gly410Asp] |
1234
..
1234
|
A/C |
rs145959767
|
+ |
CDS |
Nonsynonymous[Thr412Pro] |
1237
..
1237
|
A/G |
rs139825565
|
+ |
CDS |
Nonsynonymous[Lys413Glu] |
1238
..
1238
|
A/C |
rs201231949
|
+ |
CDS |
Nonsynonymous[Lys413Thr] |
1239
..
1239
|
G/T |
rs200337395
|
+ |
CDS |
Nonsynonymous[Lys413Asn] |
1269
..
1269
|
G/A |
rs8881
|
+ |
CDS |
Synonymous[Ala423Ala] |
1274
..
1274
|
G/A |
rs146164970
|
+ |
CDS |
Nonsynonymous[Arg425Lys] |
1279
..
1279
|
C/T |
rs139980639
|
+ |
CDS |
Nonsynonymous[Arg427Cys] |
1284
..
1284
|
C/G |
rs149838538
|
+ |
CDS |
Synonymous[Leu428Leu] |
1285
..
1285
|
T/G |
rs185310853
|
+ |
CDS |
STOP-AA[*429Glu] |
1293
..
1293
|
C/T |
rs11183
|
- |
3'UTR |
|
1304
..
1304
|
T/G |
rs200370739
|
+ |
3'UTR |
|
1307
..
1307
|
A/G/C |
rs8777
|
- |
3'UTR |
|
1311
..
1311
|
C/T |
rs201689765
|
+ |
3'UTR |
|
1312
..
1312
|
G/T |
rs6007347
|
+ |
3'UTR |
|
1322
..
1322
|
C/T |
rs199814548
|
+ |
3'UTR |
|
1323
..
1323
|
C/G/T |
rs111858743
|
+ |
3'UTR |
|
1325
..
1325
|
C/T |
rs10439933
|
+ |
3'UTR |
|
1328
..
1328
|
C/T |
rs181260182
|
+ |
3'UTR |
|
1351
..
1351
|
G/A |
rs2071763
|
+ |
3'UTR |
|
1353
..
1353
|
A/C |
rs140803027
|
+ |
3'UTR |
|
1356
..
1356
|
C/T |
rs6006895
|
+ |
3'UTR |
|
1387
..
1387
|
A/G |
rs8138059
|
+ |
3'UTR |
|
1400
..
1400
|
C/T |
rs117929765
|
+ |
3'UTR |
|
1426
..
1426
|
G/C |
rs2071764
|
+ |
3'UTR |
|
1445
..
1445
|
T/C |
rs6007348
|
+ |
3'UTR |
|
1462
..
1462
|
A/C |
rs6519899
|
+ |
3'UTR |
|
Microsatellite (Short Tandem Repeat, STR) |
No data available |
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) |
No data available |
|
Repeat
|
No data available |
|