Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
6
..
6
|
C/A |
rs201169280
|
+ |
CDS |
Nonsynonymous[Phe2Leu] |
12
..
12
|
T/G |
rs140938470
|
+ |
CDS |
Synonymous[Ser4Ser] |
48
..
48
|
C/T |
rs150369383
|
+ |
CDS |
Synonymous[Asn16Asn] |
49
..
49
|
G/A |
rs138097660
|
+ |
CDS |
Nonsynonymous[Ala17Thr] |
74
..
74
|
G/A |
rs201542762
|
+ |
CDS |
Nonsynonymous[Arg25Lys] |
111
..
111
|
C/T |
rs199725488
|
+ |
CDS |
Synonymous[Ser37Ser] |
135
..
135
|
G/A |
rs142546325
|
+ |
CDS |
Synonymous[Thr45Thr] |
160
..
160
|
C/T |
rs138344486
|
+ |
CDS |
Nonsynonymous[Arg54Cys] |
161
..
161
|
G/A |
rs144824741
|
+ |
CDS |
Nonsynonymous[Arg54His] |
171
..
171
|
G/A |
rs138580692
|
+ |
CDS |
Synonymous[Pro57Pro] |
175
..
175
|
C/T |
rs200192711
|
+ |
CDS |
Nonsynonymous[Arg59Cys] |
201
..
201
|
G/T |
rs200240371
|
+ |
CDS |
Nonsynonymous[Glu67Asp] |
252
..
252
|
T/G |
rs79211530
|
+ |
CDS |
Synonymous[Leu84Leu] |
276
..
276
|
C/T |
rs144496567
|
+ |
CDS |
Synonymous[Asn92Asn] |
352
..
352
|
C/G |
rs199759976
|
+ |
CDS |
Nonsynonymous[Arg118Gly] |
354
..
354
|
G/A |
rs201329472
|
+ |
CDS |
Synonymous[Arg118Arg] |
357
..
357
|
G/A |
rs146323999
|
+ |
CDS |
Synonymous[Leu119Leu] |
456
..
456
|
C/T |
rs148395057
|
+ |
CDS |
Synonymous[Ser152Ser] |
478
..
478
|
G/A |
rs141637051
|
+ |
CDS |
Nonsynonymous[Gly160Ser] |
510
..
510
|
C/G |
rs201915095
|
+ |
CDS |
Nonsynonymous[Ser170Arg] |
513
..
513
|
G/A |
rs150688695
|
+ |
CDS |
Synonymous[Glu171Glu] |
519
..
519
|
C/T |
rs141049830
|
+ |
CDS |
Synonymous[Gly173Gly] |
528
..
528
|
G/A |
rs144819627
|
+ |
CDS |
Synonymous[Ala176Ala] |
580
..
580
|
G/A |
rs121965062
|
+ |
CDS |
Nonsynonymous[Val194Met] |
609
..
609
|
C/T |
rs147941157
|
+ |
CDS |
Synonymous[Phe203Phe] |
615
..
615
|
C/T |
rs140093022
|
+ |
CDS |
Synonymous[Asp205Asp] |
643
..
643
|
A/G |
rs149997779
|
+ |
CDS |
Nonsynonymous[Ser215Gly] |
645
..
645
|
C/T |
rs201846794
|
+ |
CDS |
Synonymous[Ser215Ser] |
650
..
650
|
G/A |
rs1057335
|
+ |
CDS |
Nonsynonymous[Arg217Lys] |
662
..
662
|
C/T |
rs202177313
|
+ |
CDS |
Nonsynonymous[Pro221Leu] |
700
..
700
|
C/T |
rs57360598
|
+ |
CDS |
Nonsynonymous[Pro234Ser] |
701
..
701
|
C/T |
rs143256930
|
+ |
CDS |
Nonsynonymous[Pro234Leu] |
702
..
702
|
G/A |
rs146511927
|
+ |
CDS |
Synonymous[Pro234Pro] |
717
..
717
|
C/G |
rs141153217
|
+ |
CDS |
Nonsynonymous[Phe239Leu] |
745
..
745
|
G/A |
rs144890920
|
+ |
CDS |
Nonsynonymous[Gly249Arg] |
759
..
759
|
C/T |
rs138629993
|
+ |
CDS |
Synonymous[Phe253Phe] |
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 |
|