Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
80
..
80
|
C/G |
rs111340736
|
- |
5'UTR |
|
137
..
137
|
G/A |
rs72828676
|
- |
5'UTR |
|
171
..
171
|
A/C |
rs11466190
|
+ |
5'UTR |
|
478
..
478
|
G/A |
rs10183171
|
- |
CDS |
Synonymous[Gln27Gln] |
490
..
490
|
C/G |
rs200477881
|
- |
CDS |
Nonsynonymous[Asn31Lys] |
495
..
495
|
C/T |
rs138392270
|
- |
CDS |
Nonsynonymous[Thr33Met] |
516
..
516
|
C/T |
rs199569305
|
- |
CDS |
Nonsynonymous[Pro40Leu] |
517
..
517
|
G/A |
rs150074771
|
- |
CDS |
Synonymous[Pro40Pro] |
521
..
521
|
G/A |
rs147786817
|
- |
CDS |
Nonsynonymous[Val42Met] |
528
..
528
|
C/A |
rs199700477
|
- |
CDS |
Nonsynonymous[Ala44Glu] |
562
..
562
|
T/C |
rs147816445
|
- |
CDS |
Synonymous[Asp55Asp] |
647
..
647
|
G/A |
rs148679837
|
- |
CDS |
Nonsynonymous[Val84Ile] |
670
..
670
|
G/A |
rs144680956
|
- |
CDS |
Synonymous[Ala91Ala] |
691
..
691
|
T/C |
rs140020331
|
- |
CDS |
Synonymous[Ala98Ala] |
721
..
721
|
C/G |
rs142836881
|
- |
CDS |
Synonymous[Ala108Ala] |
733
..
733
|
C/A |
rs141582665
|
- |
CDS |
Synonymous[Val112Val] |
740
..
740
|
G/A |
rs11466259
|
+ |
CDS |
Nonsynonymous[Val115Met] |
795
..
795
|
G/A |
rs146962706
|
- |
CDS |
Nonsynonymous[Arg133Gln] |
822
..
822
|
T/A |
rs200451222
|
- |
CDS |
Nonsynonymous[Leu142His] |
830
..
830
|
C/T |
rs147241222
|
- |
CDS |
Nonsynonymous[Arg145Trp] |
859
..
859
|
G/A |
rs140828225
|
- |
CDS |
Synonymous[Lys154Lys] |
874
..
874
|
C/A |
rs199594512
|
- |
CDS |
AA-STOP[Cys159*] |
895
..
895
|
T/C |
rs2166975
|
- |
CDS |
Synonymous[Val166Val] |
905
..
905
|
C/T |
rs199990904
|
- |
3'UTR |
|
910
..
910
|
G/A |
rs200314587
|
- |
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 |
|