Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
13
..
13
|
T/C |
rs200678837
|
+ |
5'UTR |
|
34
..
34
|
A/G |
rs10908721
|
+ |
5'UTR |
|
113
..
113
|
G/A |
rs62641745
|
+ |
CDS |
Nonsynonymous[Asp22Asn] |
150
..
150
|
A/G |
rs200924583
|
+ |
CDS |
Nonsynonymous[Gln34Arg] |
152
..
152
|
C/G/T |
rs138704767
|
+ |
CDS |
|
169
..
169
|
C/A/T |
rs116409990
|
+ |
CDS |
|
170
..
170
|
G/A |
rs116203586
|
+ |
CDS |
Nonsynonymous[Val41Met] |
175
^
176
|
-/C |
rs35762410
|
+ |
CDS |
|
205
..
205
|
C/T |
rs146285820
|
+ |
CDS |
Synonymous[Gly52Gly] |
211
..
211
|
C/A |
rs80068748
|
+ |
CDS |
Synonymous[Ile54Ile] |
217
..
217
|
T/G |
rs112577371
|
+ |
CDS |
Nonsynonymous[Ile56Met] |
231
..
231
|
G/A |
rs141763562
|
+ |
CDS |
Nonsynonymous[Arg61Gln] |
235
..
235
|
T/G |
rs10908722
|
+ |
CDS |
Nonsynonymous[Ile62Met] |
237
..
237
|
A/G |
rs200002931
|
+ |
CDS |
Nonsynonymous[Asp63Gly] |
258
..
258
|
T/C |
rs35634161
|
+ |
CDS |
Nonsynonymous[Met70Thr] |
260
..
260
|
T/C |
rs116161672
|
+ |
CDS |
Nonsynonymous[Tyr71His] |
298
..
298
|
A/C |
rs145304434
|
+ |
CDS |
Synonymous[Val83Val] |
299
..
299
|
T/A |
rs116754841
|
+ |
CDS |
Nonsynonymous[Tyr84Asn] |
325
..
325
|
G/C |
rs201195973
|
+ |
CDS |
Nonsynonymous[Met92Ile] |
339
..
339
|
T/G |
rs201658172
|
+ |
CDS |
Nonsynonymous[Val97Gly] |
358
..
358
|
G/A |
rs12048482
|
+ |
CDS |
Nonsynonymous[Met103Ile] |
367
..
367
|
A/T |
rs140782298
|
+ |
CDS |
Synonymous[Ala106Ala] |
385
..
385
|
G/A |
rs12118628
|
+ |
CDS |
Nonsynonymous[Met112Ile] |
396
..
396
|
T/C |
rs138020603
|
+ |
CDS |
Nonsynonymous[Val116Ala] |
411
..
411
|
C/T |
rs76241483
|
+ |
CDS |
Nonsynonymous[Thr121Ile] |
427
..
427
|
C/G |
rs199938422
|
+ |
CDS |
Synonymous[Leu126Leu] |
435
..
435
|
T/C |
rs200416739
|
+ |
CDS |
Nonsynonymous[Met129Thr] |
466
..
466
|
C/T |
rs12070985
|
+ |
CDS |
Synonymous[Asn139Asn] |
480
..
480
|
T/G |
rs74564875
|
+ |
CDS |
Nonsynonymous[Met144Arg] |
503
..
503
|
C/A |
rs139843472
|
+ |
CDS |
Nonsynonymous[Arg152Ser] |
504
..
504
|
G/A |
rs202246787
|
+ |
CDS |
Nonsynonymous[Arg152His] |
507
..
507
|
T/C |
rs181042173
|
+ |
CDS |
Nonsynonymous[Ile153Thr] |
508
..
508
|
C/T |
rs76488331
|
+ |
CDS |
Synonymous[Ile153Ile] |
538
..
538
|
G/A |
rs185879913
|
+ |
CDS |
Synonymous[Gly163Gly] |
556
..
556
|
G/A |
rs149860482
|
+ |
CDS |
Synonymous[Thr169Thr] |
569
..
569
|
G/C |
rs143179434
|
+ |
CDS |
Nonsynonymous[Val174Leu] |
594
..
594
|
G/A |
rs188785669
|
+ |
CDS |
Nonsynonymous[Arg182Lys] |
604
..
604
|
C/G |
rs62641747
|
+ |
CDS |
Synonymous[Pro185Pro] |
623
..
623
|
C/T |
rs143481177
|
+ |
CDS |
Nonsynonymous[Arg192Cys] |
663
..
663
|
A/G |
rs140818033
|
+ |
CDS |
Nonsynonymous[Asn205Ser] |
684
..
684
|
T/A |
rs200283580
|
+ |
CDS |
Nonsynonymous[Ile212Asn] |
707
..
707
|
C/A |
rs199560609
|
+ |
CDS |
Nonsynonymous[Pro220Thr] |
718
..
718
|
G/A |
rs41264477
|
+ |
CDS |
Synonymous[Leu223Leu] |
781
..
781
|
G/A |
rs201945361
|
+ |
CDS |
Synonymous[Arg244Arg] |
784
..
784
|
G/A |
rs147037013
|
+ |
CDS |
Synonymous[Lys245Lys] |
841
..
841
|
T/A |
rs12409540
|
+ |
CDS |
AA-STOP[Cys264*] |
843
..
843
|
C/T |
rs148777598
|
+ |
CDS |
Nonsynonymous[Ala265Val] |
855
..
855
|
A/T |
rs41264479
|
+ |
CDS |
Nonsynonymous[Tyr269Phe] |
879
..
879
|
C/A |
rs200773376
|
+ |
CDS |
Nonsynonymous[Thr277Asn] |
895
..
895
|
G/A |
rs199959856
|
+ |
CDS |
Synonymous[Gln282Gln] |
903
..
903
|
C/T |
rs144480627
|
+ |
CDS |
Nonsynonymous[Ser285Leu] |
905
..
905
|
G/A |
rs201823824
|
+ |
CDS |
Nonsynonymous[Val286Met] |
921
..
921
|
T/C |
rs201898028
|
+ |
CDS |
Nonsynonymous[Ile291Thr] |
932
..
932
|
C/T |
rs139080966
|
+ |
CDS |
Synonymous[Leu295Leu] |
996
..
996
|
G/A/T |
rs200953384
|
+ |
CDS |
|
1018
..
1018
|
T/C |
rs199724526
|
+ |
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 |
|