Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
81
..
81
|
T/C |
rs2298025
|
+ |
CDS |
Nonsynonymous[Val16Ala] |
|
368
..
368
|
A/G |
rs61741806
|
+ |
CDS |
Nonsynonymous[Thr112Ala] |
|
405
..
405
|
G/C |
rs112766190
|
+ |
CDS |
Nonsynonymous[Gly124Ala] |
|
534
..
534
|
T/A |
rs117735386
|
+ |
CDS |
Nonsynonymous[Ile167Asn] |
|
575
..
575
|
G/C |
rs34733000
|
+ |
CDS |
Nonsynonymous[Val181Leu] |
|
602
..
602
|
A/G |
rs2275603
|
+ |
CDS |
Nonsynonymous[Ser190Gly] |
|
670
..
670
|
C/T |
rs4301614
|
+ |
CDS |
Synonymous[Ser212Ser] |
|
691
..
691
|
A/G |
rs71634903
|
+ |
CDS |
Nonsynonymous[Ile219Met] |
|
692
..
692
|
G/A |
rs117378923
|
+ |
CDS |
Nonsynonymous[Val220Met] |
|
931
..
931
|
G/A/T |
rs6688140
|
+ |
CDS |
|
|
1072
..
1072
|
G/A |
rs61741808
|
+ |
CDS |
Synonymous[Leu346Leu] |
|
1092
..
1092
|
G/A |
rs11746
|
+ |
CDS |
Nonsynonymous[Arg353Gln] |
|
1293
..
1293
|
T/C |
rs13661
|
+ |
3'UTR |
|
|
1294
..
1294
|
T/A |
rs1138859
|
+ |
3'UTR |
|
|
1470
..
1470
|
C/A |
rs73015462
|
+ |
3'UTR |
|
|
1554
..
1554
|
A/C |
rs114553287
|
+ |
3'UTR |
|
|
1566
..
1566
|
C/T |
rs118029428
|
+ |
3'UTR |
|
|
1605
..
1605
|
C/T |
rs112943572
|
+ |
3'UTR |
|
|
1678
..
1678
|
T/C |
rs115102512
|
+ |
3'UTR |
|
|
1802
..
1802
|
C/T |
rs57868346
|
+ |
3'UTR |
|
|
1925
..
1925
|
A/G |
rs1104911
|
- |
3'UTR |
|
|
1948
..
1948
|
C/T |
rs74128612
|
+ |
3'UTR |
|
|
1997
..
1997
|
C/A |
rs14833
|
- |
3'UTR |
|
|
2034
..
2034
|
T/C |
rs112129852
|
+ |
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 |
| MER20 |
1430 |
1654 |
+ |
| MLT1A0 |
1769 |
2064 |
+ |
|