Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
192
..
192
|
A/G |
rs115739524
|
+ |
5'UTR |
|
202
..
202
|
A/G |
rs76880664
|
+ |
5'UTR |
|
246
..
246
|
G/A |
rs187875579
|
+ |
5'UTR |
|
267
..
267
|
T/A |
rs142254443
|
+ |
5'UTR |
|
342
..
342
|
G/T |
rs146788365
|
+ |
5'UTR |
|
362
..
362
|
G/C |
rs114462048
|
+ |
5'UTR |
|
551
..
551
|
C/A |
rs189256450
|
+ |
5'UTR |
|
566
..
566
|
T/A |
rs16845005
|
+ |
5'UTR |
|
612
..
612
|
C/T |
rs117249537
|
+ |
5'UTR |
|
725
..
725
|
C/T |
rs77838635
|
+ |
5'UTR |
|
733
..
733
|
C/A |
rs62274729
|
+ |
5'UTR |
|
766
..
766
|
T/A |
rs62274730
|
+ |
5'UTR |
|
807
..
807
|
A/G |
rs191679187
|
+ |
5'UTR |
|
888
..
888
|
A/G |
rs112773486
|
+ |
CDS |
Synonymous[Glu2Glu] |
891
..
891
|
A/G |
rs144383721
|
+ |
CDS |
Synonymous[Gln3Gln] |
916
..
916
|
A/T |
rs6784362
|
+ |
CDS |
Nonsynonymous[Ile12Phe] |
929
..
929
|
C/T |
rs199954809
|
+ |
CDS |
Nonsynonymous[Pro16Leu] |
968
..
968
|
A/G |
rs6784389
|
+ |
CDS |
Nonsynonymous[Asn29Ser] |
985
..
985
|
C/T |
rs139525039
|
+ |
CDS |
Nonsynonymous[Pro35Ser] |
1014
..
1014
|
T/A |
rs147449425
|
+ |
CDS |
AA-STOP[Cys44*] |
1035
..
1035
|
G/T |
rs139994873
|
+ |
CDS |
Nonsynonymous[Met51Ile] |
1052
..
1052
|
C/T |
rs201654786
|
+ |
CDS |
Nonsynonymous[Thr57Met] |
1061
..
1061
|
T/C |
rs145406068
|
+ |
CDS |
Nonsynonymous[Phe60Ser] |
1086
..
1086
|
G/A |
rs200244028
|
+ |
CDS |
Synonymous[Leu68Leu] |
1091
..
1091
|
T/C |
rs199836523
|
+ |
CDS |
Nonsynonymous[Leu70Pro] |
1124
..
1124
|
G/C |
rs147615734
|
+ |
CDS |
Nonsynonymous[Gly81Ala] |
1169
..
1169
|
T/C |
rs140828101
|
+ |
CDS |
Nonsynonymous[Ile96Thr] |
1257
..
1257
|
G/A |
rs201328294
|
+ |
CDS |
Synonymous[Val125Val] |
1265
..
1265
|
G/A |
rs149996665
|
+ |
CDS |
Nonsynonymous[Gly128Glu] |
1293
..
1293
|
A/G |
rs149754680
|
+ |
CDS |
Synonymous[Pro137Pro] |
1391
..
1391
|
C/T |
rs145606632
|
+ |
CDS |
Nonsynonymous[Ser170Leu] |
1400
..
1400
|
C/A |
rs202040687
|
+ |
CDS |
Nonsynonymous[Ala173Glu] |
1401
..
1401
|
G/A |
rs72942858
|
+ |
CDS |
Synonymous[Ala173Ala] |
1428
..
1428
|
C/A |
rs145260761
|
+ |
CDS |
Synonymous[Gly182Gly] |
1437
..
1437
|
C/T |
rs148707216
|
+ |
CDS |
Synonymous[Val185Val] |
1464
..
1464
|
C/T |
rs140908535
|
+ |
CDS |
Synonymous[Asn194Asn] |
1471
..
1471
|
A/G |
rs12054046
|
+ |
CDS |
Nonsynonymous[Thr197Ala] |
1521
..
1521
|
C/G |
rs148150314
|
+ |
CDS |
Synonymous[Thr213Thr] |
1540
..
1540
|
C/A |
rs200281628
|
+ |
CDS |
Nonsynonymous[Gln220Lys] |
1544
..
1544
|
C/A |
rs79899644
|
+ |
CDS |
Nonsynonymous[Ala221Asp] |
1545
..
1545
|
C/A |
rs141935668
|
+ |
CDS |
Synonymous[Ala221Ala] |
1550
..
1550
|
A/G |
rs200052497
|
+ |
CDS |
Nonsynonymous[Asn223Ser] |
1559
..
1559
|
G/A |
rs150699636
|
+ |
CDS |
Nonsynonymous[Gly226Asp] |
1619
..
1619
|
A/G |
rs191429921
|
+ |
CDS |
Nonsynonymous[Asp246Gly] |
1667
..
1667
|
C/T |
rs138954799
|
+ |
CDS |
Nonsynonymous[Thr262Ile] |
1668
..
1668
|
C/T |
rs115439464
|
+ |
CDS |
Synonymous[Thr262Thr] |
1669
..
1669
|
G/A |
rs186547877
|
+ |
CDS |
Nonsynonymous[Val263Ile] |
1693
..
1693
|
C/A |
rs147459423
|
+ |
CDS |
Synonymous[Arg271Arg] |
1700
..
1700
|
G/A/T |
rs139821068
|
+ |
CDS |
|
1736
..
1736
|
A/G |
rs145497598
|
+ |
CDS |
Nonsynonymous[Lys285Arg] |
1800
..
1800
|
C/T |
rs144278178
|
+ |
CDS |
Synonymous[Cys306Cys] |
1814
..
1814
|
C/T |
rs35230466
|
- |
CDS |
Nonsynonymous[Pro311Leu] |
1815
..
1815
|
G/A |
rs58997897
|
+ |
CDS |
Synonymous[Pro311Pro] |
1852
..
1852
|
A/T |
rs201274883
|
+ |
CDS |
Nonsynonymous[Arg324Trp] |
1856
..
1856
|
C/T |
rs142178709
|
+ |
CDS |
Nonsynonymous[Thr325Met] |
1896
..
1896
|
C/G |
rs202206793
|
+ |
CDS |
Synonymous[Leu338Leu] |
1908
..
1908
|
C/T |
rs151186856
|
+ |
CDS |
Synonymous[Pro342Pro] |
1968
..
1968
|
G/A |
rs140417136
|
+ |
CDS |
Nonsynonymous[Met362Ile] |
1977
..
1977
|
C/G |
rs199929007
|
+ |
CDS |
Nonsynonymous[Phe365Leu] |
1980
..
1980
|
G/A |
rs113029955
|
+ |
CDS |
Synonymous[Gln366Gln] |
1996
..
1996
|
A/C |
rs144126454
|
+ |
CDS |
Nonsynonymous[Ser372Arg] |
1999
..
1999
|
G/A |
rs79539385
|
+ |
CDS |
Nonsynonymous[Ala373Thr] |
2033
..
2033
|
C/T |
rs201532080
|
+ |
CDS |
Nonsynonymous[Thr384Met] |
2034
..
2034
|
G/A |
rs140794333
|
+ |
CDS |
Synonymous[Thr384Thr] |
2035
..
2035
|
A/G |
rs144706422
|
+ |
CDS |
Nonsynonymous[Ser385Gly] |
2080
..
2080
|
G/C |
rs200602855
|
+ |
CDS |
Nonsynonymous[Gly400Arg] |
2108
..
2108
|
T/A |
rs201404486
|
+ |
CDS |
Nonsynonymous[Ile409Lys] |
2129
..
2129
|
G/C |
rs145500020
|
+ |
CDS |
STOP-AA[*416Ser] |
2142
..
2142
|
T/G |
rs201992718
|
+ |
3'UTR |
|
2178
..
2178
|
T/C |
rs144244933
|
+ |
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 |
MIR |
1 |
38 |
+ |
L1PA8 |
39 |
111 |
+ |
|