Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
164
..
164
|
A/G |
rs141332414
|
- |
CDS |
Nonsynonymous[Asn55Ser] |
189
..
189
|
T/C |
rs146464464
|
- |
CDS |
Synonymous[His63His] |
273
..
273
|
C/T |
rs139065275
|
- |
CDS |
Synonymous[Gly91Gly] |
300
..
300
|
A/G |
rs148691501
|
- |
CDS |
Synonymous[Gln100Gln] |
337
..
337
|
C/A |
rs201023360
|
- |
CDS |
Nonsynonymous[Leu113Met] |
344
..
344
|
G/A |
rs143642798
|
- |
CDS |
Nonsynonymous[Arg115Gln] |
504
..
504
|
G/A |
rs201432124
|
- |
CDS |
Synonymous[Glu168Glu] |
514
..
514
|
C/T |
rs138096201
|
- |
CDS |
Nonsynonymous[Arg172Cys] |
515
..
515
|
G/A |
rs149587286
|
- |
CDS |
Nonsynonymous[Arg172His] |
522
..
522
|
G/A |
rs140432837
|
- |
CDS |
Synonymous[Glu174Glu] |
532
..
532
|
C/T |
rs148381397
|
- |
CDS |
Nonsynonymous[Arg178Cys] |
540
..
540
|
T/A |
rs2785204
|
- |
CDS |
Nonsynonymous[Asp180Glu] |
541
..
541
|
C/T |
rs141364661
|
- |
CDS |
Nonsynonymous[Arg181Trp] |
565
..
565
|
C/G |
rs200650081
|
- |
CDS |
Nonsynonymous[Arg189Gly] |
588
..
588
|
A/T |
rs201461224
|
- |
CDS |
Nonsynonymous[Glu196Asp] |
589
..
589
|
C/T |
rs142024814
|
- |
CDS |
Nonsynonymous[Arg197Trp] |
608
..
608
|
A/G |
rs199518908
|
- |
CDS |
Nonsynonymous[Glu203Gly] |
630
..
630
|
G/A |
rs1340868
|
- |
CDS |
Synonymous[Arg210Arg] |
647
..
647
|
A/G |
rs201871225
|
- |
CDS |
Nonsynonymous[Glu216Gly] |
665
..
665
|
C/T |
rs150540046
|
- |
CDS |
Nonsynonymous[Ser222Leu] |
701
..
701
|
T/C |
rs147227325
|
- |
CDS |
Nonsynonymous[Leu234Pro] |
761
..
761
|
C/T |
rs147401807
|
- |
CDS |
Nonsynonymous[Pro254Leu] |
772
..
772
|
C/G |
rs143810413
|
- |
CDS |
Nonsynonymous[Pro258Ala] |
799
..
799
|
C/T |
rs200278281
|
- |
CDS |
Nonsynonymous[Pro267Ser] |
809
..
809
|
C/T |
rs149359910
|
- |
CDS |
Nonsynonymous[Pro270Leu] |
813
..
813
|
A/C |
rs145188989
|
- |
CDS |
Synonymous[Pro271Pro] |
928
..
928
|
C/G |
rs201016572
|
- |
CDS |
Nonsynonymous[Pro310Ala] |
1047
..
1047
|
T/G |
rs112734185
|
- |
CDS |
Synonymous[Leu349Leu] |
1063
..
1063
|
G/A |
rs143052362
|
- |
CDS |
Nonsynonymous[Gly355Arg] |
1064
..
1064
|
G/A |
rs145797306
|
- |
CDS |
Nonsynonymous[Gly355Glu] |
1096
..
1096
|
G/A |
rs151173302
|
- |
CDS |
Nonsynonymous[Asp366Asn] |
1100
..
1100
|
C/A |
rs149039693
|
- |
CDS |
Nonsynonymous[Thr367Asn] |
1127
..
1127
|
T/C |
rs75136619
|
- |
CDS |
Nonsynonymous[Ile376Thr] |
1190
..
1190
|
G/C |
rs139773212
|
- |
CDS |
Nonsynonymous[Gly397Ala] |
1224
..
1224
|
G/C |
rs147843407
|
- |
CDS |
Synonymous[Leu408Leu] |
1256
..
1256
|
G/A |
rs150858944
|
- |
CDS |
Nonsynonymous[Gly419Glu] |
1262
..
1262
|
C/A |
rs75986582
|
- |
CDS |
Nonsynonymous[Thr421Lys] |
1263
..
1263
|
A/G |
rs141466987
|
- |
CDS |
Synonymous[Thr421Thr] |
1274
..
1274
|
A/G |
rs113271908
|
- |
CDS |
Nonsynonymous[Glu425Gly] |
1276
..
1276
|
C/G |
rs77211786
|
- |
CDS |
Nonsynonymous[Gln426Glu] |
1284
..
1284
|
G/A |
rs146063337
|
- |
CDS |
Synonymous[Glu428Glu] |
1345
..
1345
|
C/T |
rs189813142
|
- |
CDS |
Nonsynonymous[Pro449Ser] |
1401
..
1401
|
T/A |
rs143799748
|
- |
CDS |
Synonymous[Val467Val] |
1403
..
1403
|
T/C |
rs149413176
|
- |
CDS |
Nonsynonymous[Ile468Thr] |
1457
..
1457
|
C/T |
rs141150172
|
- |
CDS |
Nonsynonymous[Thr486Met] |
1525
..
1525
|
C/T |
rs11556772
|
+ |
CDS |
Synonymous[Leu509Leu] |
1527
..
1527
|
A/C |
rs144474730
|
- |
CDS |
Synonymous[Leu509Leu] |
1544
..
1544
|
A/G |
rs113170551
|
- |
CDS |
Nonsynonymous[Asp515Gly] |
1579
..
1579
|
G/A |
rs114476062
|
- |
CDS |
Nonsynonymous[Ala527Thr] |
1588
..
1588
|
A/G |
rs17501138
|
- |
3'UTR |
|
1607
..
1607
|
G/T |
rs184878811
|
- |
3'UTR |
|
1758
..
1758
|
T/A |
rs149348028
|
- |
3'UTR |
|
1806
..
1806
|
A/T |
rs1054019
|
+ |
3'UTR |
|
1825
..
1825
|
T/C |
rs192876284
|
- |
3'UTR |
|
1886
..
1886
|
G/A |
rs188405610
|
- |
3'UTR |
|
2070
..
2070
|
A/G |
rs11556773
|
+ |
3'UTR |
|
2089
..
2089
|
A/G |
rs74147001
|
- |
3'UTR |
|
2191
..
2191
|
A/G |
rs17560215
|
- |
3'UTR |
|
2241
..
2241
|
T/A |
rs184404375
|
- |
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 |
|