Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
30
..
30
|
C/T |
rs79652147
|
+ |
5'UTR |
|
45
..
45
|
C/T |
rs115563001
|
+ |
5'UTR |
|
47
..
47
|
C/T |
rs202030952
|
+ |
5'UTR |
|
65
..
65
|
T/C |
rs11681642
|
+ |
CDS |
Nonsynonymous[Met1Thr] |
67
..
67
|
G/T |
rs142881463
|
+ |
CDS |
Nonsynonymous[Ala2Ser] |
90
..
90
|
T/C |
rs17853498
|
+ |
CDS |
Synonymous[Pro9Pro] |
96
..
96
|
G/C |
rs199559744
|
+ |
CDS |
Synonymous[Gly11Gly] |
103
..
103
|
G/A |
rs111306070
|
+ |
CDS |
Nonsynonymous[Gly14Ser] |
131
..
131
|
G/C |
rs141116839
|
+ |
CDS |
Nonsynonymous[Arg23Pro] |
146
..
146
|
C/T |
rs200569195
|
+ |
CDS |
Nonsynonymous[Ala28Val] |
152
..
152
|
C/T |
rs17720303
|
+ |
CDS |
Nonsynonymous[Thr30Ile] |
154
..
154
|
C/T |
rs121964879
|
+ |
CDS |
AA-STOP[Arg31*] |
155
..
155
|
G/A |
rs143516810
|
+ |
CDS |
Nonsynonymous[Arg31Gln] |
175
..
175
|
C/T |
rs145773738
|
+ |
CDS |
Nonsynonymous[Arg38Cys] |
201
..
201
|
C/T |
rs2266918
|
+ |
CDS |
Synonymous[Ser46Ser] |
207
..
207
|
C/T |
rs144845223
|
+ |
CDS |
Synonymous[Asn48Asn] |
259
..
259
|
G/A |
rs146103071
|
+ |
CDS |
Nonsynonymous[Val66Ile] |
279
..
279
|
T/C |
rs140021331
|
+ |
CDS |
Synonymous[Asp72Asp] |
289
..
289
|
A/C |
rs146304463
|
+ |
CDS |
Synonymous[Arg76Arg] |
294
..
294
|
C/T |
rs151191933
|
+ |
CDS |
Synonymous[Ser77Ser] |
295
..
295
|
G/A |
rs121964881
|
+ |
CDS |
Nonsynonymous[Gly78Arg] |
298
..
298
|
C/A |
rs140341636
|
+ |
CDS |
Nonsynonymous[Gln79Lys] |
305
..
305
|
T/C |
rs121964880
|
+ |
CDS |
Nonsynonymous[Leu81Pro] |
327
..
327
|
G/A |
rs147576439
|
+ |
CDS |
Synonymous[Ala88Ala] |
360
..
360
|
C/T |
rs147933361
|
+ |
CDS |
Synonymous[Ile99Ile] |
368
..
368
|
G/A |
rs202011016
|
+ |
CDS |
Nonsynonymous[Arg102Lys] |
404
..
404
|
G/A |
rs200269431
|
+ |
CDS |
Nonsynonymous[Arg114Gln] |
411
..
411
|
G/A |
rs145734697
|
+ |
CDS |
Synonymous[Pro116Pro] |
425
..
425
|
T/A |
rs201325403
|
+ |
CDS |
Nonsynonymous[Met121Lys] |
450
..
450
|
C/T |
rs143835931
|
+ |
CDS |
Synonymous[Ser129Ser] |
486
..
486
|
G/A |
rs141969350
|
+ |
CDS |
Synonymous[Ala141Ala] |
544
..
544
|
G/A |
rs114234874
|
+ |
CDS |
Nonsynonymous[Glu161Lys] |
580
..
580
|
G/A |
rs146293474
|
+ |
CDS |
Nonsynonymous[Val173Ile] |
630
..
630
|
C/T |
rs112442277
|
+ |
CDS |
Synonymous[Ala189Ala] |
654
..
654
|
C/T |
rs199914263
|
+ |
CDS |
Synonymous[Ala197Ala] |
655
..
655
|
G/A |
rs148482773
|
+ |
CDS |
Nonsynonymous[Ala198Thr] |
714
..
714
|
T/G |
rs145196117
|
+ |
CDS |
Nonsynonymous[His217Gln] |
717
..
717
|
C/T |
rs116139984
|
+ |
CDS |
Synonymous[Asp218Asp] |
726
..
726
|
C/T |
rs187207556
|
+ |
CDS |
Synonymous[Phe221Phe] |
733
..
733
|
G/A |
rs202215158
|
+ |
CDS |
Nonsynonymous[Val224Ile] |
789
..
789
|
T/C |
rs140131920
|
+ |
CDS |
Synonymous[Phe242Phe] |
813
..
813
|
C/T |
rs185606441
|
+ |
CDS |
Synonymous[Asn250Asn] |
848
..
848
|
C/T |
rs202100626
|
+ |
CDS |
Nonsynonymous[Thr262Met] |
853
..
853
|
G/C |
rs200839517
|
+ |
CDS |
Nonsynonymous[Glu264Gln] |
864
..
864
|
C/T |
rs145380477
|
+ |
CDS |
Synonymous[Ile267Ile] |
869
..
869
|
C/T |
rs145090491
|
+ |
CDS |
Nonsynonymous[Pro269Leu] |
870
..
870
|
G/A |
rs142016861
|
+ |
CDS |
Synonymous[Pro269Pro] |
878
..
878
|
C/T |
rs145735762
|
+ |
CDS |
Nonsynonymous[Ala272Val] |
938
..
938
|
C/T |
rs141815629
|
+ |
CDS |
Nonsynonymous[Thr292Met] |
960
..
960
|
G/A |
rs139183119
|
+ |
CDS |
Synonymous[Glu299Glu] |
989
..
989
|
A/G |
rs201556073
|
+ |
CDS |
Nonsynonymous[Glu309Gly] |
1003
..
1003
|
C/T |
rs147187470
|
+ |
CDS |
Nonsynonymous[Arg314Cys] |
1006
..
1006
|
C/T |
rs145536062
|
+ |
CDS |
AA-STOP[Arg315*] |
1055
..
1055
|
G/A |
rs148429410
|
+ |
CDS |
Nonsynonymous[Arg331Gln] |
1065
..
1065
|
C/T |
rs2072462
|
+ |
CDS |
Synonymous[Arg334Arg] |
1086
..
1086
|
C/T |
rs117826071
|
+ |
CDS |
Synonymous[Ser341Ser] |
1090
..
1090
|
A/G |
rs113070242
|
+ |
CDS |
Nonsynonymous[Thr343Ala] |
1095
..
1095
|
G/A |
rs146844637
|
+ |
CDS |
Synonymous[Gln344Gln] |
1122
..
1122
|
C/T |
rs200790672
|
+ |
CDS |
Synonymous[Asp353Asp] |
1151
..
1151
|
C/T |
rs145799342
|
+ |
CDS |
Nonsynonymous[Thr363Met] |
1163
..
1163
|
C/T |
rs199924171
|
+ |
CDS |
Nonsynonymous[Thr367Ile] |
1192
..
1192
|
C/A |
rs199595604
|
+ |
CDS |
Nonsynonymous[Leu377Ile] |
1218
..
1218
|
C/A |
rs149169747
|
+ |
CDS |
Synonymous[Pro385Pro] |
1262
..
1262
|
T/C |
rs201630416
|
+ |
CDS |
Nonsynonymous[Ile400Thr] |
1293
..
1293
|
A/G |
rs143225024
|
+ |
CDS |
Synonymous[Gly410Gly] |
1299
..
1299
|
C/G |
rs147229014
|
+ |
CDS |
Synonymous[Val412Val] |
1329
..
1329
|
C/G |
rs142779030
|
+ |
CDS |
Nonsynonymous[Ile422Met] |
1338
..
1338
|
C/A |
rs150773440
|
+ |
CDS |
Nonsynonymous[Asp425Glu] |
1361
..
1361
|
T/C |
rs149910460
|
+ |
CDS |
Nonsynonymous[Val433Ala] |
1383
..
1383
|
T/G |
rs147250093
|
+ |
CDS |
Synonymous[Ser440Ser] |
1391
..
1391
|
T/C |
rs200135789
|
+ |
CDS |
Nonsynonymous[Leu443Pro] |
1443
..
1443
|
C/T |
rs140722500
|
+ |
CDS |
Synonymous[Gly460Gly] |
1457
..
1457
|
G/A |
rs142905621
|
+ |
CDS |
Nonsynonymous[Arg465His] |
1468
..
1468
|
G/A |
rs140980255
|
+ |
CDS |
Nonsynonymous[Glu469Lys] |
1479
..
1479
|
C/G |
rs138716118
|
+ |
CDS |
Nonsynonymous[Asp472Glu] |
1511
..
1511
|
A/T |
rs147036242
|
+ |
CDS |
Nonsynonymous[Lys483Met] |
1556
..
1556
|
A/G |
rs201234802
|
+ |
CDS |
Nonsynonymous[Tyr498Cys] |
1558
..
1558
|
T/C |
rs144261150
|
+ |
CDS |
Nonsynonymous[Ser499Pro] |
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 |
|