Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
273
..
273
|
T/C |
rs112922378
|
+ |
CDS |
Nonsynonymous[Val34Ala] |
|
280
..
280
|
T/C |
rs17762440
|
+ |
CDS |
Synonymous[Asp36Asp] |
|
817
..
817
|
C/T |
rs112427744
|
+ |
CDS |
Synonymous[Pro215Pro] |
|
854
..
854
|
A/G |
rs117540301
|
+ |
CDS |
Nonsynonymous[Ile228Val] |
|
1282
..
1282
|
C/G |
rs61754411
|
+ |
CDS |
Nonsynonymous[Asn370Lys] |
|
1499
..
1499
|
G/A |
rs71459181
|
+ |
CDS |
Nonsynonymous[Val443Ile] |
|
1616
..
1616
|
G/T |
rs78433620
|
+ |
CDS |
AA-STOP[Glu482*] |
|
1744
..
1744
|
G/A |
rs74073225
|
+ |
CDS |
Synonymous[Val524Val] |
|
1798
..
1798
|
T/C |
rs1050646
|
+ |
CDS |
Synonymous[Gly542Gly] |
|
1855
..
1855
|
C/T |
rs111913342
|
+ |
CDS |
Synonymous[Tyr561Tyr] |
|
2227
..
2227
|
T/C |
rs71581909
|
+ |
CDS |
Synonymous[Asn685Asn] |
|
2260
..
2260
|
C/A |
rs6488782
|
+ |
CDS |
Synonymous[Gly696Gly] |
|
2272
..
2272
|
C/T |
rs80309166
|
+ |
CDS |
Synonymous[Asn700Asn] |
|
2428
..
2428
|
T/C |
rs36020879
|
+ |
CDS |
Synonymous[Phe752Phe] |
|
2430
..
2430
|
A/G |
rs80173106
|
+ |
CDS |
Nonsynonymous[Glu753Gly] |
|
2578
..
2578
|
T/C |
rs61741744
|
+ |
CDS |
Synonymous[Ser802Ser] |
|
2810
..
2810
|
G/T |
rs11056560
|
+ |
CDS |
Nonsynonymous[Gly880Cys] |
|
2929
..
2929
|
G/A |
rs61754412
|
+ |
CDS |
Synonymous[Leu919Leu] |
|
3124
..
3124
|
G/A |
rs3748299
|
+ |
CDS |
Synonymous[Gly984Gly] |
|
3349
..
3349
|
C/T |
rs77872564
|
+ |
CDS |
Synonymous[Asp1059Asp] |
|
3499
..
3499
|
T/A |
rs4356288
|
+ |
CDS |
Nonsynonymous[Ser1109Arg] |
|
3551
..
3551
|
C/G |
rs61757814
|
+ |
CDS |
Nonsynonymous[His1127Asp] |
|
3569
..
3569
|
T/A |
rs3190975
|
+ |
CDS |
Nonsynonymous[Phe1133Ile] |
|
3810
..
3810
|
C/G |
rs113024827
|
+ |
3'UTR |
|
|
4110
..
4110
|
G/A |
rs80301530
|
+ |
3'UTR |
|
|
4180
..
4180
|
C/G |
rs73305557
|
+ |
3'UTR |
|
|
4463
..
4463
|
G/T |
rs73305558
|
+ |
3'UTR |
|
|
4591
..
4591
|
C/G |
rs1802754
|
+ |
3'UTR |
|
|
4624
..
4624
|
A/G |
rs7306091
|
+ |
3'UTR |
|
|
4664
..
4664
|
T/G |
rs74476689
|
+ |
3'UTR |
|
|
4666
..
4666
|
A/G |
rs117346438
|
+ |
3'UTR |
|
|
4753
..
4753
|
T/C |
rs73305559
|
+ |
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 |
|