Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
99
..
99
|
G/T |
rs11658876
|
- |
CDS |
Nonsynonymous[Ala17Ser] |
143
..
143
|
T/G |
rs150024312
|
- |
CDS |
Nonsynonymous[Asp31Glu] |
178
..
178
|
G/T |
rs2233665
|
+ |
CDS |
Nonsynonymous[Arg43Leu] |
179
..
179
|
T/G |
rs147481037
|
- |
CDS |
Synonymous[Arg43Arg] |
202
..
202
|
G/T |
rs201359263
|
- |
CDS |
Nonsynonymous[Gly51Val] |
313
..
313
|
T/C |
rs121918373
|
+ |
CDS |
Nonsynonymous[Val88Ala] |
347
..
347
|
C/T |
rs144654469
|
- |
CDS |
Synonymous[Val99Val] |
364
..
364
|
G/A |
rs121918372
|
+ |
CDS |
Nonsynonymous[Arg105His] |
373
..
373
|
C/G |
rs199792568
|
- |
CDS |
Nonsynonymous[Thr108Ser] |
382
..
382
|
G/A |
rs1049515
|
+ |
CDS |
Nonsynonymous[Gly111Glu] |
389
..
389
|
C/T |
rs1049517
|
+ |
CDS |
Synonymous[Asp113Asp] |
476
..
476
|
G/A |
rs1049525
|
+ |
CDS |
Synonymous[Gln142Gln] |
494
..
494
|
G/T |
rs140693016
|
- |
CDS |
Nonsynonymous[Arg148Ser] |
524
..
524
|
C/T |
rs201875820
|
- |
CDS |
Synonymous[Ala158Ala] |
574
..
574
|
T/G |
rs150607417
|
- |
CDS |
Nonsynonymous[Phe175Cys] |
575
..
575
|
C/T |
rs191710304
|
- |
CDS |
Synonymous[Phe175Phe] |
590
..
590
|
A/G |
rs141363200
|
- |
CDS |
Synonymous[Thr180Thr] |
596
..
596
|
G/A |
rs148262252
|
- |
CDS |
Synonymous[Ala182Ala] |
698
..
698
|
C/T |
rs144040543
|
- |
CDS |
Synonymous[Gly216Gly] |
728
..
728
|
C/T |
rs149508639
|
- |
CDS |
Synonymous[Asn226Asn] |
758
..
758
|
C/T |
rs142883213
|
- |
CDS |
Synonymous[Ile236Ile] |
759
..
759
|
G/A |
rs137958073
|
- |
CDS |
Nonsynonymous[Glu237Lys] |
803
..
803
|
C/T |
rs2233670
|
+ |
CDS |
Synonymous[Leu251Leu] |
879
..
879
|
C/G |
rs2233671
|
+ |
3'UTR |
|
894
..
894
|
C/T |
rs200124498
|
- |
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 |
|