Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
7
..
7
|
G/A |
rs192867529
|
+ |
5'UTR |
|
46
..
46
|
C/T |
rs11545555
|
+ |
5'UTR |
|
98
..
98
|
C/T |
rs200253669
|
+ |
5'UTR |
|
103
..
103
|
G/C |
rs3758410
|
- |
5'UTR |
|
177
..
177
|
C/T |
rs11545549
|
+ |
CDS |
Nonsynonymous[Pro18Leu] |
266
..
266
|
A/C |
rs201189169
|
+ |
CDS |
Nonsynonymous[Thr48Pro] |
273
..
273
|
G/A |
rs11545553
|
+ |
CDS |
Nonsynonymous[Arg50His] |
316
..
316
|
C/A |
rs34171769
|
- |
CDS |
Synonymous[Arg64Arg] |
328
..
328
|
G/C |
rs11545547
|
+ |
CDS |
Synonymous[Val68Val] |
352
..
352
|
G/T |
rs111616371
|
+ |
CDS |
Synonymous[Gly76Gly] |
353
..
353
|
G/A |
rs184701100
|
+ |
CDS |
Nonsynonymous[Val77Met] |
354
..
354
|
T/C |
rs11545548
|
+ |
CDS |
Nonsynonymous[Val77Ala] |
406
..
406
|
C/T |
rs144539901
|
+ |
CDS |
Synonymous[Thr94Thr] |
508
..
508
|
T/C |
rs147857896
|
+ |
CDS |
Synonymous[Asn128Asn] |
514
..
514
|
C/A |
rs113013980
|
+ |
CDS |
Synonymous[Ile130Ile] |
520
..
520
|
G/A |
rs11545554
|
+ |
CDS |
Synonymous[Leu132Leu] |
562
..
562
|
G/A |
rs1042003
|
+ |
CDS |
Synonymous[Leu146Leu] |
575
..
575
|
G/A |
rs121917775
|
+ |
CDS |
Nonsynonymous[Glu151Lys] |
578
..
578
|
G/A |
rs141319821
|
+ |
CDS |
Nonsynonymous[Glu152Lys] |
613
..
613
|
G/A |
rs201551781
|
+ |
CDS |
Synonymous[Gln163Gln] |
638
..
638
|
G/C |
rs11545550
|
+ |
CDS |
Nonsynonymous[Glu172Gln] |
666
..
666
|
A/C |
rs149942621
|
+ |
CDS |
Nonsynonymous[Asp181Ala] |
677
..
677
|
C/G |
rs201325757
|
+ |
CDS |
Nonsynonymous[Leu185Val] |
678
..
678
|
T/C |
rs11545551
|
+ |
CDS |
Nonsynonymous[Leu185Pro] |
723
..
723
|
A/G |
rs145760831
|
+ |
CDS |
Nonsynonymous[Glu200Gly] |
733
..
733
|
G/A |
rs148956484
|
+ |
CDS |
Synonymous[Leu203Leu] |
736
..
736
|
A/G |
rs143636314
|
+ |
CDS |
Synonymous[Gln204Gln] |
754
..
754
|
T/C |
rs61761616
|
+ |
CDS |
Synonymous[Val210Val] |
759
..
759
|
A/G |
rs116800063
|
+ |
CDS |
Nonsynonymous[Asn212Ser] |
770
..
770
|
G/A |
rs138235394
|
+ |
CDS |
Nonsynonymous[Ala216Thr] |
838
..
838
|
C/T |
rs141244457
|
+ |
CDS |
Synonymous[His238His] |
873
..
873
|
A/G |
rs145152785
|
+ |
CDS |
Nonsynonymous[Gln250Arg] |
890
..
890
|
A/G |
rs139037306
|
+ |
CDS |
Nonsynonymous[Ile256Val] |
898
..
898
|
G/A |
rs141519986
|
+ |
CDS |
Synonymous[Val258Val] |
920
..
920
|
A/G |
rs113576905
|
+ |
CDS |
Nonsynonymous[Thr266Ala] |
921
..
921
|
C/T |
rs150878383
|
+ |
CDS |
Nonsynonymous[Thr266Met] |
922
..
922
|
G/A |
rs137961338
|
+ |
CDS |
Synonymous[Thr266Thr] |
937
..
937
|
C/T |
rs4903
|
+ |
CDS |
Synonymous[Asp271Asp] |
938
..
938
|
G/A |
rs199515026
|
+ |
CDS |
Nonsynonymous[Val272Ile] |
962
..
962
|
G/T |
rs147133187
|
+ |
CDS |
Nonsynonymous[Ala280Ser] |
1003
..
1003
|
C/G |
rs11254467
|
+ |
CDS |
Synonymous[Ser293Ser] |
1023
..
1023
|
A/G |
rs144238562
|
+ |
CDS |
Nonsynonymous[Glu300Gly] |
1046
..
1046
|
G/T |
rs11545546
|
+ |
CDS |
Nonsynonymous[Ala308Ser] |
1111
..
1111
|
A/G |
rs147429387
|
+ |
CDS |
Synonymous[Glu329Glu] |
1118
..
1118
|
G/A |
rs200772352
|
+ |
CDS |
Nonsynonymous[Ala332Thr] |
1132
..
1132
|
C/T |
rs111932484
|
+ |
CDS |
Synonymous[Thr336Thr] |
1158
..
1158
|
G/A |
rs116370722
|
+ |
CDS |
Nonsynonymous[Arg345His] |
1175
..
1175
|
T/G |
rs200740172
|
+ |
CDS |
Nonsynonymous[Phe351Val] |
1204
..
1204
|
C/G |
rs139818786
|
+ |
CDS |
Nonsynonymous[Asp360Glu] |
1209
..
1209
|
T/C |
rs114322672
|
+ |
CDS |
Nonsynonymous[Ile362Thr] |
1216
..
1216
|
C/G |
rs116696668
|
+ |
CDS |
Synonymous[Arg364Arg] |
1256
..
1256
|
C/T |
rs201530534
|
+ |
CDS |
Nonsynonymous[Arg378Cys] |
1266
..
1266
|
G/A |
rs35157876
|
- |
CDS |
Nonsynonymous[Arg381His] |
1345
..
1345
|
G/A |
rs150986868
|
+ |
CDS |
Synonymous[Glu407Glu] |
1371
..
1371
|
C/A |
rs11545541
|
- |
CDS |
Nonsynonymous[Pro416Gln] |
1381
..
1381
|
C/T |
rs11545556
|
+ |
CDS |
Synonymous[Ser419Ser] |
1390
..
1390
|
C/T |
rs140482660
|
+ |
CDS |
Synonymous[Asn422Asn] |
1417
..
1417
|
C/T |
rs150003485
|
+ |
CDS |
Synonymous[Leu431Leu] |
1424
..
1424
|
G/A |
rs146586974
|
+ |
CDS |
Nonsynonymous[Val434Ile] |
1509
..
1509
|
A/C |
rs11545543
|
- |
CDS |
Nonsynonymous[His462Pro] |
1537
..
1537
|
A/T |
rs144519674
|
+ |
3'UTR |
|
1580
..
1580
|
C/T |
rs12667
|
+ |
3'UTR |
|
1632
..
1632
|
G/A |
rs112279926
|
+ |
3'UTR |
|
1654
..
1654
|
A/G |
rs9235
|
+ |
3'UTR |
|
1661
..
1661
|
C/G |
rs186277663
|
+ |
3'UTR |
|
1667
..
1667
|
C/G/T |
rs9059
|
+ |
3'UTR |
|
1671
..
1671
|
A/T |
rs189996263
|
+ |
3'UTR |
|
1672
..
1672
|
C/G/T |
rs9486
|
+ |
3'UTR |
|
1687
..
1687
|
C/T |
rs9485
|
+ |
3'UTR |
|
1697
^
1698
|
-/A |
rs71683678
|
+ |
3'UTR |
|
1720
..
1720
|
G/T |
rs9484
|
+ |
3'UTR |
|
1753
..
1753
|
T/C |
rs11545542
|
- |
3'UTR |
|
1772
..
1772
|
C/T |
rs3249
|
- |
3'UTR |
|
1784
..
1784
|
T/- |
rs71724273
|
+ |
3'UTR |
|
1817
..
1817
|
G/T |
rs1049341
|
- |
3'UTR |
|
1820
..
1820
|
C/T |
rs1063520
|
+ |
3'UTR |
|
1847
..
1847
|
C/A |
rs3179873
|
+ |
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 |
|