Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
2
..
2
|
A/G |
rs187944188
|
- |
5'UTR |
|
114
..
114
|
G/C |
rs149039196
|
- |
5'UTR |
|
120
..
120
|
G/C |
rs11805711
|
- |
5'UTR |
|
134
..
134
|
T/C |
rs857835
|
- |
5'UTR |
|
194
..
194
|
G/T |
rs41264044
|
- |
5'UTR |
|
253
..
253
|
C/T |
rs200003269
|
- |
CDS |
Nonsynonymous[Ala18Val] |
257
..
257
|
T/C |
rs141515020
|
- |
CDS |
Synonymous[Ser19Ser] |
267
..
267
|
G/T |
rs112622134
|
- |
CDS |
Nonsynonymous[Val23Phe] |
290
..
290
|
G/A |
rs115461210
|
- |
CDS |
Synonymous[Leu30Leu] |
306
..
306
|
C/T |
rs138356091
|
- |
CDS |
Synonymous[Leu36Leu] |
311
..
311
|
C/T |
rs145617711
|
- |
CDS |
Synonymous[Phe37Phe] |
312
..
312
|
A/G |
rs150169454
|
- |
CDS |
Nonsynonymous[Thr38Ala] |
327
..
327
|
A/T |
rs201184276
|
- |
CDS |
Nonsynonymous[Met43Leu] |
330
..
330
|
C/T |
rs150989932
|
- |
CDS |
Nonsynonymous[Leu44Phe] |
361
..
361
|
C/G |
rs201631129
|
- |
CDS |
Nonsynonymous[Ala54Gly] |
475
..
475
|
T/G |
rs188248742
|
- |
CDS |
Nonsynonymous[Ile92Ser] |
485
..
485
|
A/T |
rs150485140
|
- |
CDS |
Synonymous[Ala95Ala] |
489
..
489
|
T/C |
rs148621650
|
- |
CDS |
Nonsynonymous[Cys97Arg] |
503
..
503
|
C/T |
rs149431183
|
- |
CDS |
Synonymous[Thr101Thr] |
526
..
526
|
C/T |
rs139851411
|
- |
CDS |
Nonsynonymous[Ala109Val] |
543
..
543
|
C/T |
rs138319042
|
- |
CDS |
Nonsynonymous[Leu115Phe] |
583
..
583
|
G/C/A |
rs140526095
|
- |
CDS |
|
612
..
612
|
A/T |
rs143171609
|
- |
CDS |
Nonsynonymous[Thr138Ser] |
656
..
656
|
C/A |
rs149116336
|
- |
CDS |
Synonymous[Gly152Gly] |
669
..
669
|
A/G |
rs191011544
|
- |
CDS |
Nonsynonymous[Ile157Val] |
671
..
671
|
T/A |
rs114399082
|
- |
CDS |
Synonymous[Ile157Ile] |
745
..
745
|
C/T |
rs185660018
|
- |
CDS |
Nonsynonymous[Pro182Leu] |
775
..
775
|
C/T |
rs149694373
|
- |
CDS |
Nonsynonymous[Thr192Ile] |
778
..
778
|
C/A |
rs150936453
|
- |
CDS |
Nonsynonymous[Ser193Tyr] |
779
..
779
|
T/C |
rs16841094
|
- |
CDS |
Synonymous[Ser193Ser] |
796
..
796
|
A/T |
rs147929171
|
- |
CDS |
Nonsynonymous[Asp199Val] |
811
..
811
|
C/T |
rs12027473
|
- |
CDS |
Nonsynonymous[Ala204Val] |
829
..
829
|
C/A |
rs201820210
|
- |
CDS |
Nonsynonymous[Thr210Asn] |
883
..
883
|
T/C |
rs199717306
|
- |
CDS |
Nonsynonymous[Ile228Thr] |
925
..
925
|
C/T |
rs144392860
|
- |
CDS |
Nonsynonymous[Ala242Val] |
941
..
941
|
G/C |
rs139708565
|
- |
CDS |
Synonymous[Val247Val] |
948
..
948
|
A/G |
rs41273541
|
- |
CDS |
Nonsynonymous[Ile250Val] |
982
..
982
|
G/T/A |
rs141853976
|
- |
CDS |
|
1014
..
1014
|
C/T |
rs77219835
|
- |
CDS |
AA-STOP[Arg272*] |
1020
..
1020
|
C/G |
rs143063009
|
- |
CDS |
Nonsynonymous[Leu274Val] |
1038
..
1038
|
G/A |
rs186539843
|
- |
CDS |
Nonsynonymous[Val280Ile] |
1060
..
1060
|
C/A |
rs199979930
|
- |
CDS |
Nonsynonymous[Pro287Gln] |
1077
..
1077
|
C/T |
rs144962739
|
- |
CDS |
Nonsynonymous[Arg293Cys] |
1113
..
1113
|
A/G |
rs140258151
|
- |
CDS |
Nonsynonymous[Ile305Val] |
1290
..
1290
|
A/T/G/C |
rs2518524
|
- |
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 |
|