Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
40
..
40
|
G/C |
rs79991799
|
+ |
5'UTR |
|
76
..
76
|
C/G |
rs186913289
|
+ |
5'UTR |
|
239
..
239
|
G/T |
rs201082115
|
+ |
CDS |
Nonsynonymous[Arg26Leu] |
270
..
270
|
G/A |
rs149723965
|
+ |
CDS |
Synonymous[Lys36Lys] |
291
..
291
|
T/C |
rs199650634
|
+ |
CDS |
Synonymous[Val43Val] |
295
..
295
|
A/C |
rs35643688
|
+ |
CDS |
Nonsynonymous[Asn45His] |
325
..
325
|
C/T |
rs181094032
|
+ |
CDS |
Nonsynonymous[Pro55Ser] |
339
..
339
|
G/A |
rs114073258
|
+ |
CDS |
Synonymous[Thr59Thr] |
348
..
348
|
C/T |
rs200804642
|
+ |
CDS |
Synonymous[Ala62Ala] |
492
..
492
|
C/G |
rs200376723
|
+ |
CDS |
Synonymous[Thr110Thr] |
540
..
540
|
C/T |
rs115805986
|
+ |
CDS |
Synonymous[Ala126Ala] |
541
..
541
|
G/A |
rs144708707
|
+ |
CDS |
Nonsynonymous[Val127Ile] |
565
..
565
|
T/C |
rs150667467
|
+ |
CDS |
Nonsynonymous[Phe135Leu] |
711
..
711
|
C/A |
rs115821410
|
+ |
CDS |
Synonymous[Thr183Thr] |
725
..
725
|
C/T |
rs116276965
|
+ |
CDS |
Nonsynonymous[Thr188Ile] |
756
..
756
|
G/A |
rs138870190
|
+ |
CDS |
Synonymous[Thr198Thr] |
759
..
759
|
G/A |
rs6686999
|
+ |
CDS |
Synonymous[Ala199Ala] |
791
..
791
|
C/T |
rs115104693
|
+ |
CDS |
Nonsynonymous[Thr210Met] |
792
..
792
|
G/A |
rs142303528
|
+ |
CDS |
Synonymous[Thr210Thr] |
830
..
830
|
C/T |
rs139144326
|
+ |
CDS |
Nonsynonymous[Ser223Leu] |
860
..
860
|
C/T |
rs147454339
|
+ |
CDS |
Nonsynonymous[Thr233Ile] |
872
^
873
|
-/A |
rs34021286
|
+ |
CDS |
|
875
..
875
|
C/T |
rs199920612
|
+ |
CDS |
Nonsynonymous[Thr238Met] |
911
..
911
|
T/C |
rs200412476
|
+ |
CDS |
Nonsynonymous[Val250Ala] |
952
..
952
|
G/A |
rs146512748
|
+ |
CDS |
Nonsynonymous[Val264Met] |
983
..
983
|
A/G |
rs144616047
|
+ |
CDS |
Nonsynonymous[Gln274Arg] |
1000
..
1000
|
G/A |
rs201983531
|
+ |
CDS |
Nonsynonymous[Ala280Thr] |
1014
..
1014
|
C/T |
rs11207207
|
+ |
CDS |
Synonymous[Gly284Gly] |
1026
..
1026
|
C/G |
rs199804042
|
+ |
CDS |
Synonymous[Val288Val] |
1035
..
1035
|
C/T |
rs201251882
|
+ |
CDS |
Synonymous[His291His] |
1036
..
1036
|
G/A |
rs201045061
|
+ |
CDS |
Nonsynonymous[Gly292Ser] |
1044
..
1044
|
C/T |
rs200845828
|
+ |
CDS |
Synonymous[Tyr294Tyr] |
1049
..
1049
|
A/G |
rs148363129
|
+ |
CDS |
Nonsynonymous[Lys296Arg] |
1104
..
1104
|
C/T |
rs147123833
|
+ |
CDS |
Synonymous[Asn314Asn] |
1119
..
1119
|
C/T |
rs115573796
|
+ |
CDS |
Synonymous[Cys319Cys] |
1123
..
1123
|
T/A |
rs202155456
|
+ |
CDS |
Nonsynonymous[Tyr321Asn] |
1125
..
1125
|
C/T |
rs35926792
|
- |
CDS |
Synonymous[Tyr321Tyr] |
1162
..
1162
|
C/T |
rs144067765
|
+ |
CDS |
Synonymous[Leu334Leu] |
1171
..
1171
|
A/G |
rs139686611
|
+ |
CDS |
Nonsynonymous[Met337Val] |
1206
..
1206
|
G/A |
rs200171187
|
+ |
CDS |
Synonymous[Gln348Gln] |
1213
..
1213
|
T/C |
rs180885482
|
+ |
CDS |
Synonymous[Leu351Leu] |
1214
..
1214
|
T/C |
rs201280801
|
+ |
CDS |
Nonsynonymous[Leu351Ser] |
1219
..
1219
|
C/T |
rs200248629
|
+ |
CDS |
Nonsynonymous[Arg353Trp] |
1282
..
1282
|
G/A |
rs144719934
|
+ |
CDS |
Nonsynonymous[Val374Met] |
1288
..
1288
|
C/G |
rs143313497
|
+ |
CDS |
Nonsynonymous[Leu376Val] |
1311
..
1311
|
T/C |
rs144105297
|
+ |
CDS |
Synonymous[Ile383Ile] |
1319
..
1319
|
C/T |
rs139973362
|
+ |
CDS |
Nonsynonymous[Ala386Val] |
1320
..
1320
|
G/A |
rs113442582
|
+ |
CDS |
Synonymous[Ala386Ala] |
1334
..
1334
|
C/G |
rs199769368
|
+ |
CDS |
Nonsynonymous[Ala391Gly] |
1366
..
1366
|
C/A |
rs146677950
|
+ |
CDS |
Nonsynonymous[Pro402Thr] |
1548
..
1548
|
G/A |
rs114412907
|
+ |
CDS |
Synonymous[Gln462Gln] |
1555
..
1555
|
C/A |
rs200295199
|
+ |
CDS |
Nonsynonymous[Arg465Ser] |
1581
..
1581
|
C/T |
rs150331213
|
+ |
CDS |
Synonymous[Leu473Leu] |
1660
..
1660
|
C/T |
rs149050977
|
+ |
CDS |
Nonsynonymous[Arg500Trp] |
1695
..
1695
|
C/T |
rs138442381
|
+ |
CDS |
Synonymous[Asp511Asp] |
Microsatellite (Short Tandem Repeat, STR) |
No data available |
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) |
No data available |
|
Repeat
|
Type |
Start |
End |
Strand |
OldhAT1 |
1292 |
1389 |
- |
|