Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
30
..
30
|
C/T |
rs77141792
|
+ |
CDS |
Synonymous[Arg10Arg] |
31
..
31
|
G/C |
rs201895231
|
+ |
CDS |
Nonsynonymous[Gly11Arg] |
47
..
47
|
T/G |
rs726684
|
+ |
CDS |
Nonsynonymous[Leu16Arg] |
193
..
193
|
C/T |
rs182052960
|
+ |
CDS |
Nonsynonymous[Arg65Cys] |
299
..
299
|
C/T |
rs148589854
|
+ |
CDS |
Nonsynonymous[Pro100Leu] |
307
..
307
|
C/T |
rs142751758
|
+ |
CDS |
Synonymous[Leu103Leu] |
356
..
356
|
T/C |
rs113280752
|
+ |
CDS |
Nonsynonymous[Val119Ala] |
429
..
429
|
C/T |
rs151037104
|
+ |
CDS |
Synonymous[Asn143Asn] |
442
..
442
|
C/G |
rs201229959
|
+ |
CDS |
Nonsynonymous[Pro148Ala] |
519
..
519
|
C/- |
rs3214276
|
+ |
CDS |
|
561
..
561
|
T/G |
rs11575958
|
+ |
CDS |
Nonsynonymous[Asn187Lys] |
601
..
601
|
G/C |
rs199973289
|
+ |
CDS |
Nonsynonymous[Asp201His] |
639
..
639
|
G/T |
rs189963623
|
+ |
CDS |
Synonymous[Thr213Thr] |
645
..
645
|
G/A |
rs181214352
|
+ |
CDS |
Synonymous[Ser215Ser] |
662
..
662
|
C/G |
rs200282311
|
+ |
CDS |
Nonsynonymous[Pro221Arg] |
669
..
669
|
T/C |
rs116240246
|
+ |
CDS |
Synonymous[Ser223Ser] |
701
..
701
|
A/T |
rs72492419
|
+ |
CDS |
Nonsynonymous[Asp234Val] |
731
..
731
|
A/G |
rs72790032
|
+ |
CDS |
Nonsynonymous[His244Arg] |
779
..
779
|
G/A |
rs200863279
|
+ |
CDS |
Nonsynonymous[Arg260Gln] |
845
..
845
|
G/A |
rs141295392
|
+ |
CDS |
Nonsynonymous[Arg282Gln] |
897
..
897
|
G/T |
rs143738602
|
+ |
CDS |
Synonymous[Gly299Gly] |
905
..
905
|
C/G |
rs185464441
|
+ |
CDS |
AA-STOP[Ser302*] |
916
..
916
|
A/G |
rs189824439
|
+ |
CDS |
Nonsynonymous[Ser306Gly] |
1008
..
1008
|
G/T |
rs2240700
|
+ |
CDS |
Synonymous[Ser336Ser] |
1081
..
1081
|
C/G |
rs201697840
|
+ |
CDS |
Nonsynonymous[Leu361Val] |
1085
..
1085
|
C/T |
rs182092307
|
+ |
CDS |
Nonsynonymous[Pro362Leu] |
1130
..
1130
|
G/A |
rs186465469
|
+ |
CDS |
Nonsynonymous[Gly377Glu] |
1182
..
1182
|
A/C |
rs201832611
|
+ |
CDS |
Nonsynonymous[Leu394Phe] |
1270
..
1270
|
G/A |
rs146481056
|
+ |
CDS |
Nonsynonymous[Ala424Thr] |
1339
..
1339
|
G/A |
rs141035845
|
+ |
CDS |
Nonsynonymous[Asp447Asn] |
1358
..
1358
|
C/T |
rs115102808
|
+ |
CDS |
Nonsynonymous[Pro453Leu] |
1432
..
1432
|
G/A |
rs144796076
|
+ |
CDS |
Nonsynonymous[Asp478Asn] |
1474
..
1474
|
A/C |
rs199519740
|
+ |
CDS |
Nonsynonymous[Thr492Pro] |
1476
..
1476
|
C/A |
rs191844335
|
+ |
CDS |
Synonymous[Thr492Thr] |
1508
..
1508
|
C/G |
rs11575959
|
+ |
CDS |
Nonsynonymous[Ser503Trp] |
1554
..
1554
|
A/G |
rs201573539
|
+ |
CDS |
Synonymous[Gln518Gln] |
1556
..
1556
|
C/T |
rs183754735
|
+ |
CDS |
Nonsynonymous[Ser519Phe] |
1580
..
1580
|
A/G |
rs201461446
|
+ |
CDS |
Nonsynonymous[Asp527Gly] |
1615
..
1615
|
G/A |
rs199658498
|
+ |
CDS |
Nonsynonymous[Asp539Asn] |
1637
..
1637
|
T/A |
rs188283892
|
+ |
CDS |
Nonsynonymous[Met546Lys] |
1751
..
1751
|
G/C |
rs200338108
|
+ |
CDS |
Nonsynonymous[Arg584Pro] |
1752
..
1752
|
T/C |
rs199836246
|
+ |
CDS |
Synonymous[Arg584Arg] |
1824
..
1824
|
G/C |
rs201732776
|
+ |
CDS |
Synonymous[Leu608Leu] |
1890
..
1890
|
A/C |
rs138625114
|
+ |
CDS |
Synonymous[Arg630Arg] |
1908
..
1908
|
T/C |
rs4912749
|
+ |
CDS |
Synonymous[Asp636Asp] |
1927
..
1927
|
G/A |
rs148904388
|
+ |
CDS |
Nonsynonymous[Val643Met] |
1990
..
1990
|
G/A |
rs143444747
|
+ |
CDS |
Nonsynonymous[Val664Met] |
2011
..
2011
|
G/C |
rs200702899
|
+ |
CDS |
Nonsynonymous[Val671Leu] |
2023
..
2023
|
T/G |
rs116789057
|
+ |
CDS |
Nonsynonymous[Leu675Val] |
2281
..
2281
|
G/C |
rs192995605
|
+ |
CDS |
Nonsynonymous[Ala761Pro] |
2309
..
2309
|
T/C |
rs72790033
|
+ |
CDS |
Nonsynonymous[Phe770Ser] |
2325
..
2325
|
C/T |
rs147992300
|
+ |
CDS |
Synonymous[Tyr775Tyr] |
2369
..
2369
|
C/T |
rs143509166
|
+ |
CDS |
Nonsynonymous[Ser790Phe] |
2397
..
2397
|
A/G |
rs200048432
|
+ |
CDS |
Synonymous[Glu799Glu] |
2461
..
2461
|
G/A |
rs201391904
|
+ |
CDS |
Nonsynonymous[Ala821Thr] |
2473
..
2473
|
G/A |
rs200418116
|
+ |
CDS |
Nonsynonymous[Gly825Ser] |
2529
..
2529
|
T/C |
rs149352680
|
+ |
CDS |
Synonymous[Phe843Phe] |
2628
..
2628
|
C/T |
rs143630962
|
+ |
CDS |
Synonymous[Ser876Ser] |
2629
..
2629
|
G/A |
rs114669158
|
+ |
CDS |
Nonsynonymous[Ala877Thr] |
2632
..
2632
|
C/T |
rs148119281
|
+ |
CDS |
Nonsynonymous[Arg878Cys] |
2637
..
2637
|
C/T |
rs141873183
|
+ |
CDS |
Synonymous[Tyr879Tyr] |
2640
..
2640
|
A/G |
rs2233612
|
+ |
CDS |
Synonymous[Gly880Gly] |
2662
..
2662
|
G/A |
rs116366286
|
+ |
CDS |
Nonsynonymous[Val888Met] |
2675
..
2675
|
G/A |
rs61749029
|
+ |
CDS |
Nonsynonymous[Arg892His] |
2702
..
2702
|
A/G |
rs201009079
|
+ |
CDS |
Nonsynonymous[Asn901Ser] |
2718
..
2718
|
C/T |
rs143362044
|
+ |
CDS |
Synonymous[Asn906Asn] |
2761
..
2761
|
G/A |
rs200541479
|
+ |
CDS |
Nonsynonymous[Gly921Ser] |
2777
..
2777
|
C/T |
rs202071188
|
+ |
CDS |
Nonsynonymous[Ser926Leu] |
2796
..
2796
|
G/A |
rs147534370
|
+ |
CDS |
Synonymous[Lys932Lys] |
2828
..
2828
|
C/T |
rs201024828
|
+ |
3'UTR |
|
2829
..
2829
|
G/A |
rs2233613
|
+ |
3'UTR |
|
2934
..
2934
|
G/A |
rs76613492
|
+ |
3'UTR |
|
2990
..
2990
|
T/C |
rs115159796
|
+ |
3'UTR |
|
3000
..
3000
|
C/A |
rs191106767
|
+ |
3'UTR |
|
3236
..
3236
|
C/A |
rs146235929
|
+ |
3'UTR |
|
3254
..
3254
|
G/C |
rs4912608
|
+ |
3'UTR |
|
3329
..
3329
|
T/G |
rs148447880
|
+ |
3'UTR |
|
3491
..
3491
|
G/A |
rs142624814
|
+ |
3'UTR |
|
3512
..
3512
|
T/C |
rs113814137
|
+ |
3'UTR |
|
3518
..
3518
|
C/T |
rs150999050
|
+ |
3'UTR |
|
3525
..
3525
|
T/G |
rs187622252
|
+ |
3'UTR |
|
3714
..
3714
|
A/G |
rs192947391
|
+ |
3'UTR |
|
3797
..
3797
|
T/C |
rs140884268
|
+ |
3'UTR |
|
3820
..
3820
|
G/A |
rs111365449
|
+ |
3'UTR |
|
4011
..
4011
|
A/G |
rs78180647
|
+ |
3'UTR |
|
4079
..
4079
|
G/A |
rs185198109
|
+ |
3'UTR |
|
4172
..
4172
|
C/T |
rs147780926
|
+ |
3'UTR |
|
4465
..
4465
|
C/T |
rs141207714
|
+ |
3'UTR |
|
4484
..
4484
|
G/T |
rs189734474
|
+ |
3'UTR |
|
4540
..
4540
|
C/T |
rs112402554
|
+ |
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 |
|