Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
59
..
59
|
C/T |
rs76102487
|
+ |
CDS |
Nonsynonymous[Ala13Val] |
105
..
105
|
C/A |
rs139026231
|
+ |
CDS |
Synonymous[Ala28Ala] |
130
..
130
|
T/G |
rs191271641
|
+ |
CDS |
Nonsynonymous[Cys37Gly] |
178
..
178
|
G/T |
rs7008933
|
+ |
CDS |
AA-STOP[Glu53*] |
219
..
219
|
G/A |
rs180885131
|
+ |
CDS |
Synonymous[Pro66Pro] |
225
..
225
|
G/A |
rs149890594
|
+ |
CDS |
Synonymous[Pro68Pro] |
310
..
310
|
C/T |
rs139736714
|
+ |
CDS |
Nonsynonymous[Arg97Cys] |
311
..
311
|
G/A |
rs181295694
|
+ |
CDS |
Nonsynonymous[Arg97His] |
448
..
448
|
C/T |
rs186544210
|
+ |
CDS |
Nonsynonymous[Leu143Phe] |
471
..
471
|
G/A |
rs75023938
|
+ |
CDS |
Synonymous[Gln150Gln] |
516
..
516
|
G/A |
rs180954794
|
+ |
CDS |
Nonsynonymous[Met165Ile] |
518
..
518
|
T/C |
rs147825619
|
+ |
CDS |
Nonsynonymous[Leu166Ser] |
617
..
617
|
G/A |
rs188436897
|
+ |
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
|
Type |
Start |
End |
Strand |
MLT1K |
297 |
466 |
- |
|