Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
60
..
60
|
G/A |
rs12125310
|
- |
5'UTR |
|
|
282
..
282
|
T/C |
rs111818924
|
- |
CDS |
Synonymous[Leu73Leu] |
|
809
..
809
|
A/G |
rs115103475
|
- |
CDS |
Synonymous[Thr248Thr] |
|
969
..
969
|
A/G |
rs114367083
|
- |
CDS |
Nonsynonymous[Ile302Val] |
|
1428
..
1428
|
G/T |
rs77833954
|
- |
CDS |
Nonsynonymous[Val455Leu] |
|
1486
..
1486
|
A/C |
rs77094536
|
- |
CDS |
Nonsynonymous[Tyr474Ser] |
|
1531
^
1532
|
-/A |
rs34001433
|
- |
CDS |
|
|
1646
..
1646
|
T/A |
rs35441120
|
+ |
CDS |
Synonymous[Pro527Pro] |
|
1729
..
1729
|
G/A |
rs72996036
|
- |
CDS |
Nonsynonymous[Arg555Gln] |
|
2135
..
2135
|
A/G |
rs111313602
|
- |
CDS |
Synonymous[Thr690Thr] |
|
2594
..
2594
|
C/T |
rs75839466
|
- |
CDS |
Synonymous[Ala843Ala] |
|
2792
..
2792
|
G/A |
rs113903415
|
- |
CDS |
Synonymous[Glu909Glu] |
|
3051
..
3051
|
G/T |
rs12023222
|
- |
CDS |
AA-STOP[Gly996*] |
|
3176
..
3176
|
G/A |
rs116755407
|
- |
CDS |
Synonymous[Glu1037Glu] |
|
3255
..
3255
|
G/T |
rs77042047
|
- |
CDS |
Nonsynonymous[Asp1064Tyr] |
|
3974
..
3974
|
G/T |
rs35198305
|
+ |
CDS |
Nonsynonymous[Glu1303Asp] |
|
3983
..
3983
|
T/G |
rs1571294
|
- |
CDS |
Synonymous[Thr1306Thr] |
|
4142
..
4142
|
G/C/A |
rs6667714
|
- |
3'UTR |
|
|
4187
..
4187
|
G/A |
rs117727823
|
- |
3'UTR |
|
|
4369
..
4369
|
T/- |
rs71775079
|
- |
3'UTR |
|
|
4373
..
4373
|
T/- |
rs71759095
|
- |
3'UTR |
|
|
4381
..
4381
|
A/T |
rs116518827
|
- |
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 |
|