Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
13
..
13
|
C/T |
rs148524381
|
+ |
CDS |
Nonsynonymous[Ala4Val] |
18
..
18
|
G/C |
rs142826230
|
+ |
CDS |
Nonsynonymous[Glu6Gln] |
39
..
39
|
A/G |
rs58002156
|
- |
CDS |
Nonsynonymous[Ser13Gly] |
62
..
62
|
C/T |
rs1044847
|
+ |
CDS |
Synonymous[Cys20Cys] |
68
..
68
|
C/T |
rs146053152
|
+ |
CDS |
Synonymous[Cys22Cys] |
81
..
81
|
C/G |
rs1044849
|
+ |
CDS |
Nonsynonymous[Leu27Val] |
90
..
90
|
G/A |
rs1044850
|
+ |
CDS |
Nonsynonymous[Val30Ile] |
94
..
94
|
G/A |
rs1044851
|
+ |
CDS |
Nonsynonymous[Gly31Asp] |
100
..
100
|
G/A |
rs1044852
|
+ |
CDS |
Nonsynonymous[Ser33Asn] |
105
..
105
|
A/G |
rs1044853
|
+ |
CDS |
Nonsynonymous[Lys35Glu] |
140
..
140
|
C/G |
rs201331452
|
+ |
CDS |
Synonymous[Pro46Pro] |
143
..
143
|
C/T |
rs139457390
|
+ |
CDS |
Synonymous[Asp47Asp] |
188
..
188
|
T/C |
rs144144091
|
+ |
CDS |
Synonymous[Tyr62Tyr] |
198
..
198
|
A/C |
rs199689901
|
+ |
CDS |
Nonsynonymous[Ile66Leu] |
198
..
198
|
A/C |
rs569874
|
+ |
CDS |
Nonsynonymous[Ile66Leu] |
236
^
237
|
-/G |
rs35825325
|
+ |
CDS |
|
274
..
274
|
C/A |
rs146503923
|
+ |
CDS |
Nonsynonymous[Pro91His] |
274
..
274
|
C/A |
rs2449791
|
- |
CDS |
Nonsynonymous[Pro91His] |
301
..
301
|
A/C |
rs2449790
|
- |
CDS |
Nonsynonymous[Tyr100Ser] |
338
..
338
|
A/G |
rs147021701
|
+ |
CDS |
Synonymous[Arg112Arg] |
341
..
341
|
T/C |
rs41290974
|
- |
CDS |
Synonymous[Tyr113Tyr] |
353
..
353
|
T/A |
rs201577424
|
+ |
CDS |
Nonsynonymous[His117Gln] |
353
..
353
|
T/A |
rs471887
|
- |
CDS |
Nonsynonymous[His117Gln] |
363
..
363
|
T/C |
rs79829378
|
+ |
CDS |
Nonsynonymous[Ser121Pro] |
385
..
385
|
T/C |
rs9902553
|
- |
CDS |
Nonsynonymous[Ile128Thr] |
410
..
410
|
A/G |
rs145531116
|
+ |
CDS |
Synonymous[Thr136Thr] |
411
..
411
|
A/G |
rs201006374
|
+ |
CDS |
Nonsynonymous[Lys137Glu] |
419
..
419
|
C/T |
rs148845002
|
+ |
CDS |
Synonymous[Ser139Ser] |
473
..
473
|
C/G/T |
rs112535435
|
+ |
CDS |
|
477
..
477
|
C/T |
rs202063240
|
+ |
CDS |
Nonsynonymous[Arg159Cys] |
495
..
495
|
G/A |
rs137899779
|
+ |
CDS |
Nonsynonymous[Val165Ile] |
498
..
498
|
G/A |
rs141921890
|
+ |
CDS |
Nonsynonymous[Glu166Lys] |
506
..
506
|
A/C |
rs201112439
|
+ |
CDS |
Synonymous[Pro168Pro] |
571
..
571
|
C/T |
rs146905900
|
+ |
CDS |
Nonsynonymous[Thr190Ile] |
634
..
634
|
C/T |
rs1638299
|
- |
CDS |
Nonsynonymous[Ala211Val] |
682
..
682
|
C/G |
rs139322675
|
+ |
CDS |
Nonsynonymous[Thr227Arg] |
698
..
698
|
C/T |
rs199662103
|
+ |
CDS |
Synonymous[Cys232Cys] |
702
..
702
|
A/T |
rs139560584
|
+ |
CDS |
Nonsynonymous[Thr234Ser] |
709
..
709
|
G/A |
rs201551794
|
+ |
CDS |
Nonsynonymous[Cys236Tyr] |
734
..
734
|
T/C |
rs150873085
|
+ |
CDS |
Synonymous[Pro244Pro] |
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 |
|