Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
53
..
53
|
A/G |
rs150778761
|
- |
CDS |
Nonsynonymous[Thr4Ala] |
65
..
65
|
A/G |
rs143075296
|
- |
CDS |
Nonsynonymous[Ser8Gly] |
74
..
74
|
C/T |
rs2307297
|
+ |
CDS |
Synonymous[Leu11Leu] |
154
..
154
|
A/T |
rs200224645
|
- |
CDS |
Nonsynonymous[Glu37Asp] |
179
..
179
|
G/A |
rs200883484
|
- |
CDS |
Nonsynonymous[Val46Met] |
182
..
182
|
G/A |
rs147232960
|
- |
CDS |
Nonsynonymous[Gly47Arg] |
224
..
224
|
T/C |
rs2307296
|
+ |
CDS |
Nonsynonymous[Cys61Arg] |
260
..
260
|
C/G |
rs148098584
|
- |
CDS |
Nonsynonymous[Gln73Glu] |
272
..
272
|
A/G |
rs143811380
|
- |
CDS |
Nonsynonymous[Thr77Ala] |
362
..
362
|
G/T |
rs201697944
|
- |
CDS |
Nonsynonymous[Asp107Tyr] |
379
..
379
|
C/T |
rs61753468
|
- |
CDS |
Synonymous[Ser112Ser] |
390
..
390
|
T/G |
rs200082149
|
- |
CDS |
Nonsynonymous[Leu116Arg] |
407
^
408
|
-/A |
rs34275677
|
- |
CDS |
|
411
..
411
|
C/T |
rs201341528
|
- |
CDS |
Nonsynonymous[Ser123Leu] |
446
..
446
|
T/G |
rs200851180
|
- |
CDS |
Nonsynonymous[Ser135Ala] |
458
..
458
|
G/C |
rs186316895
|
- |
CDS |
Nonsynonymous[Glu139Gln] |
478
..
478
|
A/G |
rs199785676
|
- |
CDS |
Synonymous[Val145Val] |
508
..
508
|
T/C |
rs138876144
|
- |
CDS |
Synonymous[Tyr155Tyr] |
526
..
526
|
A/T |
rs142605003
|
- |
CDS |
Synonymous[Ala161Ala] |
558
..
558
|
A/G |
rs145116757
|
- |
CDS |
Nonsynonymous[Asn172Ser] |
585
..
585
|
G/A |
rs180996357
|
- |
CDS |
Nonsynonymous[Arg181Gln] |
611
..
611
|
A/T |
rs140265312
|
- |
CDS |
Nonsynonymous[Met190Leu] |
615
..
615
|
C/T |
rs148464573
|
- |
CDS |
Nonsynonymous[Pro191Leu] |
616
..
616
|
G/A |
rs201684514
|
- |
CDS |
Synonymous[Pro191Pro] |
694
..
694
|
T/C |
rs201331346
|
- |
CDS |
Synonymous[Asp217Asp] |
710
..
710
|
G/A |
rs143317948
|
- |
CDS |
Nonsynonymous[Val223Ile] |
723
..
723
|
A/G |
rs199828331
|
- |
CDS |
Nonsynonymous[Lys227Arg] |
725
..
725
|
G/C |
rs140696334
|
- |
CDS |
Nonsynonymous[Val228Leu] |
726
..
726
|
T/A |
rs150940003
|
- |
CDS |
Nonsynonymous[Val228Asp] |
745
..
745
|
G/A |
rs78797976
|
- |
CDS |
Synonymous[Lys234Lys] |
750
..
750
|
C/T |
rs142668030
|
- |
CDS |
Nonsynonymous[Thr236Ile] |
755
..
755
|
T/C |
rs79326124
|
- |
CDS |
Synonymous[Leu238Leu] |
860
..
860
|
G/A/T |
rs10342
|
+ |
CDS |
|
882
..
882
|
A/T |
rs200642994
|
- |
CDS |
Nonsynonymous[Gln280Leu] |
883
..
883
|
A/G |
rs147394477
|
- |
CDS |
Synonymous[Gln280Gln] |
1067
..
1067
|
T/C |
rs2307289
|
+ |
CDS |
Nonsynonymous[Ser342Pro] |
1079
..
1079
|
G/A |
rs140693
|
+ |
CDS |
Nonsynonymous[Glu346Lys] |
1115
..
1115
|
A/T |
rs147270686
|
- |
CDS |
Nonsynonymous[Ile358Phe] |
1116
..
1116
|
T/C |
rs2307298
|
+ |
CDS |
Nonsynonymous[Ile358Thr] |
1117
..
1117
|
C/T |
rs139242730
|
- |
CDS |
Synonymous[Ile358Ile] |
1151
..
1151
|
C/T |
rs150831027
|
- |
CDS |
Nonsynonymous[His370Tyr] |
1175
..
1175
|
C/T |
rs149311534
|
- |
CDS |
Nonsynonymous[Arg378Cys] |
1202
..
1202
|
T/G |
rs141556272
|
- |
CDS |
Nonsynonymous[Ser387Ala] |
1203
..
1203
|
C/T |
rs200169155
|
- |
CDS |
Nonsynonymous[Ser387Leu] |
1220
..
1220
|
T/A |
rs188172372
|
- |
CDS |
Nonsynonymous[Phe393Ile] |
1249
..
1249
|
G/A |
rs3138351
|
+ |
CDS |
Synonymous[Gln402Gln] |
1262
..
1262
|
A/G |
rs200315861
|
- |
CDS |
Nonsynonymous[Lys407Glu] |
1264
..
1264
|
A/G |
rs201351149
|
- |
CDS |
Synonymous[Lys407Lys] |
1265
..
1265
|
A/G |
rs202188508
|
- |
CDS |
Nonsynonymous[Thr408Ala] |
1287
..
1287
|
A/G |
rs147756381
|
- |
CDS |
Nonsynonymous[Lys415Arg] |
1311
..
1311
|
C/T |
rs148378664
|
- |
CDS |
Nonsynonymous[Pro423Leu] |
1320
..
1320
|
G/A |
rs200137916
|
- |
CDS |
Nonsynonymous[Arg426His] |
1350
..
1350
|
G/A |
rs200995882
|
- |
CDS |
Nonsynonymous[Arg436Gln] |
1408
..
1408
|
C/T |
rs201776693
|
- |
CDS |
Synonymous[Ile455Ile] |
1425
..
1425
|
A/G |
rs78782061
|
- |
CDS |
Nonsynonymous[Asn461Ser] |
1438
..
1438
|
C/T |
rs140696
|
+ |
CDS |
Synonymous[Gly465Gly] |
1578
..
1578
|
A/G |
rs138445306
|
- |
CDS |
Nonsynonymous[Lys512Arg] |
1597
..
1597
|
G/A |
rs144657741
|
- |
CDS |
Synonymous[Leu518Leu] |
1619
..
1619
|
A/G |
rs183820888
|
- |
CDS |
Nonsynonymous[Ile526Val] |
1623
..
1623
|
A/T |
rs191518400
|
- |
CDS |
Nonsynonymous[Glu527Val] |
1633
..
1633
|
G/A |
rs2005619
|
+ |
CDS |
Synonymous[Gly530Gly] |
1638
..
1638
|
G/A |
rs202021161
|
- |
CDS |
Nonsynonymous[Gly532Asp] |
1702
..
1702
|
A/G |
rs2307286
|
+ |
CDS |
Synonymous[Glu553Glu] |
1713
..
1713
|
T/A |
rs200758755
|
- |
CDS |
AA-STOP[Leu557*] |
1727
..
1727
|
G/C |
rs2307293
|
+ |
CDS |
Nonsynonymous[Asp562His] |
1804
..
1804
|
C/T |
rs180861060
|
- |
3'UTR |
|
1888
..
1888
|
G/A |
rs190790404
|
- |
3'UTR |
|
1968
..
1968
|
A/T |
rs185483849
|
- |
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 |
|