Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
119
..
119
|
G/C |
rs76062939
|
+ |
5'UTR |
|
154
..
154
|
G/A |
rs74574225
|
+ |
5'UTR |
|
181
..
181
|
A/T |
rs191206370
|
+ |
5'UTR |
|
281
..
281
|
G/A |
rs117054805
|
+ |
CDS |
Nonsynonymous[Ala5Thr] |
364
..
364
|
C/G |
rs11538040
|
+ |
CDS |
Synonymous[Ser32Ser] |
370
..
370
|
A/G |
rs11538033
|
+ |
CDS |
Synonymous[Thr34Thr] |
384
..
384
|
C/A |
rs11538037
|
+ |
CDS |
Nonsynonymous[Pro39His] |
386
..
386
|
T/A |
rs182527931
|
+ |
CDS |
Nonsynonymous[Ser40Thr] |
408
..
408
|
G/A |
rs11538036
|
+ |
CDS |
Nonsynonymous[Gly47Asp] |
412
..
412
|
A/G |
rs11538035
|
+ |
CDS |
Synonymous[Gly48Gly] |
433
..
433
|
G/A |
rs187710340
|
+ |
CDS |
Synonymous[Val55Val] |
708
..
708
|
T/C |
rs139688191
|
+ |
CDS |
Nonsynonymous[Leu147Ser] |
840
..
840
|
T/C |
rs35949588
|
+ |
CDS |
Nonsynonymous[Val191Ala] |
866
..
866
|
C/T |
rs7955087
|
+ |
CDS |
AA-STOP[Arg200*] |
876
..
876
|
G/A |
rs190111718
|
+ |
CDS |
Nonsynonymous[Arg203Gln] |
1013
..
1013
|
G/A |
rs10744139
|
+ |
3'UTR |
|
1107
..
1107
|
T/A |
rs146040883
|
+ |
3'UTR |
|
1127
..
1127
|
A/C |
rs12581954
|
+ |
3'UTR |
|
1219
..
1219
|
G/A |
rs182431718
|
+ |
3'UTR |
|
1266
..
1266
|
A/T |
rs842474
|
+ |
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 |
L2 |
57 |
192 |
- |
AluY |
819 |
1124 |
+ |
|