Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
161
..
161
|
C/T |
rs149362944
|
- |
5'UTR |
|
251
..
251
|
G/C |
rs116481763
|
- |
5'UTR |
|
316
..
316
|
C/T |
rs11558604
|
+ |
5'UTR |
|
449
..
449
|
G/A |
rs201973976
|
- |
CDS |
Nonsynonymous[Asp18Asn] |
456
..
456
|
A/G |
rs149009967
|
- |
CDS |
Nonsynonymous[Asn20Ser] |
690
..
690
|
A/G |
rs141332414
|
- |
CDS |
Nonsynonymous[Asn98Ser] |
715
..
715
|
T/C |
rs146464464
|
- |
CDS |
Synonymous[His106His] |
799
..
799
|
C/T |
rs139065275
|
- |
CDS |
Synonymous[Gly134Gly] |
826
..
826
|
A/G |
rs148691501
|
- |
CDS |
Synonymous[Gln143Gln] |
863
..
863
|
C/A |
rs201023360
|
- |
CDS |
Nonsynonymous[Leu156Met] |
870
..
870
|
G/A |
rs143642798
|
- |
CDS |
Nonsynonymous[Arg158Gln] |
1030
..
1030
|
G/A |
rs201432124
|
- |
CDS |
Synonymous[Glu211Glu] |
1040
..
1040
|
C/T |
rs138096201
|
- |
CDS |
Nonsynonymous[Arg215Cys] |
1041
..
1041
|
G/A |
rs149587286
|
- |
CDS |
Nonsynonymous[Arg215His] |
1048
..
1048
|
G/A |
rs140432837
|
- |
CDS |
Synonymous[Glu217Glu] |
1058
..
1058
|
C/T |
rs148381397
|
- |
CDS |
Nonsynonymous[Arg221Cys] |
1066
..
1066
|
T/A |
rs2785204
|
- |
CDS |
Nonsynonymous[Asp223Glu] |
1067
..
1067
|
C/T |
rs141364661
|
- |
CDS |
Nonsynonymous[Arg224Trp] |
1091
..
1091
|
C/G |
rs200650081
|
- |
CDS |
Nonsynonymous[Arg232Gly] |
1114
..
1114
|
A/T |
rs201461224
|
- |
CDS |
Nonsynonymous[Glu239Asp] |
1115
..
1115
|
C/T |
rs142024814
|
- |
CDS |
Nonsynonymous[Arg240Trp] |
1134
..
1134
|
A/G |
rs199518908
|
- |
CDS |
Nonsynonymous[Glu246Gly] |
1156
..
1156
|
G/A |
rs1340868
|
- |
CDS |
Synonymous[Arg253Arg] |
1173
..
1173
|
A/G |
rs201871225
|
- |
CDS |
Nonsynonymous[Glu259Gly] |
1191
..
1191
|
C/T |
rs150540046
|
- |
CDS |
Nonsynonymous[Ser265Leu] |
1227
..
1227
|
T/C |
rs147227325
|
- |
CDS |
Nonsynonymous[Leu277Pro] |
1287
..
1287
|
C/T |
rs147401807
|
- |
CDS |
Nonsynonymous[Pro297Leu] |
1298
..
1298
|
C/G |
rs143810413
|
- |
CDS |
Nonsynonymous[Pro301Ala] |
1325
..
1325
|
C/T |
rs200278281
|
- |
CDS |
Nonsynonymous[Pro310Ser] |
1335
..
1335
|
C/T |
rs149359910
|
- |
CDS |
Nonsynonymous[Pro313Leu] |
1339
..
1339
|
A/C |
rs145188989
|
- |
CDS |
Synonymous[Pro314Pro] |
1454
..
1454
|
C/G |
rs201016572
|
- |
CDS |
Nonsynonymous[Pro353Ala] |
1573
..
1573
|
T/G |
rs112734185
|
- |
CDS |
Synonymous[Leu392Leu] |
1589
..
1589
|
G/A |
rs143052362
|
- |
CDS |
Nonsynonymous[Gly398Arg] |
1590
..
1590
|
G/A |
rs145797306
|
- |
CDS |
Nonsynonymous[Gly398Glu] |
1622
..
1622
|
G/A |
rs151173302
|
- |
CDS |
Nonsynonymous[Asp409Asn] |
1626
..
1626
|
C/A |
rs149039693
|
- |
CDS |
Nonsynonymous[Thr410Asn] |
1653
..
1653
|
T/C |
rs75136619
|
- |
CDS |
Nonsynonymous[Ile419Thr] |
1716
..
1716
|
G/C |
rs139773212
|
- |
CDS |
Nonsynonymous[Gly440Ala] |
1750
..
1750
|
G/C |
rs147843407
|
- |
CDS |
Synonymous[Leu451Leu] |
1782
..
1782
|
G/A |
rs150858944
|
- |
CDS |
Nonsynonymous[Gly462Glu] |
1788
..
1788
|
C/A |
rs75986582
|
- |
CDS |
Nonsynonymous[Thr464Lys] |
1789
..
1789
|
A/G |
rs141466987
|
- |
CDS |
Synonymous[Thr464Thr] |
1800
..
1800
|
A/G |
rs113271908
|
- |
CDS |
Nonsynonymous[Glu468Gly] |
1802
..
1802
|
C/G |
rs77211786
|
- |
CDS |
Nonsynonymous[Gln469Glu] |
1810
..
1810
|
G/A |
rs146063337
|
- |
CDS |
Synonymous[Glu471Glu] |
1871
..
1871
|
C/T |
rs189813142
|
- |
CDS |
Nonsynonymous[Pro492Ser] |
1927
..
1927
|
T/A |
rs143799748
|
- |
CDS |
Synonymous[Val510Val] |
1929
..
1929
|
T/C |
rs149413176
|
- |
CDS |
Nonsynonymous[Ile511Thr] |
1983
..
1983
|
C/T |
rs141150172
|
- |
CDS |
Nonsynonymous[Thr529Met] |
2051
..
2051
|
C/T |
rs11556772
|
+ |
CDS |
Synonymous[Leu552Leu] |
2053
..
2053
|
A/C |
rs144474730
|
- |
CDS |
Synonymous[Leu552Leu] |
2070
..
2070
|
A/G |
rs113170551
|
- |
CDS |
Nonsynonymous[Asp558Gly] |
2105
..
2105
|
G/A |
rs114476062
|
- |
CDS |
Nonsynonymous[Ala570Thr] |
2114
..
2114
|
A/G |
rs17501138
|
- |
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 |
|