Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
27
..
27
|
A/G |
rs41271527
|
+ |
CDS |
Nonsynonymous[Glu7Gly] |
|
166
..
166
|
G/T |
rs12567597
|
+ |
CDS |
Synonymous[Leu53Leu] |
|
202
..
202
|
C/G |
rs2814526
|
+ |
CDS |
Synonymous[Pro65Pro] |
|
260
..
260
|
G/A |
rs111297919
|
+ |
CDS |
Nonsynonymous[Gly85Ser] |
|
340
..
340
|
C/G |
rs61746495
|
+ |
CDS |
Synonymous[Thr111Thr] |
|
372
..
372
|
C/T |
rs3766498
|
- |
CDS |
Nonsynonymous[Pro122Leu] |
|
430
..
430
|
C/G |
rs61736962
|
+ |
CDS |
Synonymous[Thr141Thr] |
|
464
..
464
|
G/A |
rs61746497
|
+ |
CDS |
Nonsynonymous[Gly153Arg] |
|
489
..
489
|
G/T |
rs3766497
|
- |
CDS |
Nonsynonymous[Arg161Leu] |
|
656
..
656
|
C/A |
rs116174659
|
+ |
CDS |
Nonsynonymous[Gln217Lys] |
|
840
..
840
|
A/G |
rs61739198
|
+ |
CDS |
Nonsynonymous[Asn278Ser] |
|
1063
..
1063
|
A/G |
rs12048236
|
+ |
CDS |
Synonymous[Leu352Leu] |
|
1088
..
1088
|
G/A |
rs61735495
|
+ |
CDS |
Nonsynonymous[Glu361Lys] |
|
1207
..
1207
|
T/C |
rs77064011
|
+ |
CDS |
Synonymous[Ala400Ala] |
|
1219
..
1219
|
G/A |
rs76557656
|
+ |
CDS |
Synonymous[Glu404Glu] |
|
1317
..
1317
|
C/T |
rs61738408
|
+ |
CDS |
Nonsynonymous[Ser437Phe] |
|
1358
..
1358
|
A/G |
rs59165168
|
+ |
CDS |
Nonsynonymous[Lys451Glu] |
|
1658
..
1658
|
C/A |
rs117098981
|
+ |
CDS |
Nonsynonymous[Gln551Lys] |
|
1666
..
1666
|
G/A |
rs74734223
|
+ |
CDS |
Synonymous[Gln553Gln] |
|
2031
..
2031
|
A/G |
rs80140823
|
+ |
CDS |
Nonsynonymous[Asp675Gly] |
|
2325
..
2325
|
A/T |
rs61735509
|
+ |
CDS |
Nonsynonymous[His773Leu] |
|
3093
..
3093
|
A/C |
rs79188182
|
+ |
3'UTR |
|
|
3204
..
3204
|
A/G |
rs12058125
|
+ |
3'UTR |
|
|
3381
..
3381
|
T/C |
rs1845789
|
+ |
3'UTR |
|
|
3391
^
3392
|
-/C |
rs34279111
|
+ |
3'UTR |
|
|
3738
..
3738
|
A/T |
rs2795462
|
- |
3'UTR |
|
|
3766
..
3766
|
G/T |
rs78962972
|
+ |
3'UTR |
|
|
3842
..
3842
|
A/G |
rs80023785
|
+ |
3'UTR |
|
|
3851
..
3851
|
G/A |
rs16858236
|
+ |
3'UTR |
|
|
3938
..
3938
|
A/G |
rs10910626
|
+ |
3'UTR |
|
|
4067
..
4067
|
C/G |
rs10489578
|
- |
3'UTR |
|
|
4330
..
4330
|
C/T |
rs117262748
|
+ |
3'UTR |
|
|
4413
..
4413
|
T/C |
rs41307678
|
+ |
3'UTR |
|
|
4649
..
4649
|
G/A |
rs41305717
|
+ |
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 |
| L2b |
3187 |
3431 |
+ |
|