Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
98
..
98
|
G/T |
rs11546375
|
+ |
CDS |
Nonsynonymous[Met1Ile] |
128
..
128
|
C/T |
rs11546377
|
+ |
CDS |
Synonymous[Gly11Gly] |
137
..
137
|
G/T |
rs201036678
|
+ |
CDS |
Synonymous[Val14Val] |
153
..
153
|
G/A |
rs144682277
|
+ |
CDS |
Nonsynonymous[Ala20Thr] |
155
..
155
|
G/A |
rs142897686
|
+ |
CDS |
Synonymous[Ala20Ala] |
180
..
180
|
G/A |
rs138388908
|
+ |
CDS |
Nonsynonymous[Val29Met] |
200
..
200
|
G/A |
rs11546387
|
+ |
CDS |
Synonymous[Val35Val] |
207
..
207
|
T/C |
rs11546385
|
+ |
CDS |
Nonsynonymous[Phe38Leu] |
252
..
252
|
C/T |
rs188857262
|
+ |
CDS |
Synonymous[Leu53Leu] |
292
..
292
|
A/G |
rs201224497
|
+ |
CDS |
Nonsynonymous[Lys66Arg] |
308
..
308
|
A/G |
rs11546378
|
+ |
CDS |
Synonymous[Gly71Gly] |
332
..
332
|
T/C |
rs150687988
|
+ |
CDS |
Synonymous[Tyr79Tyr] |
335
..
335
|
T/C |
rs201789925
|
+ |
CDS |
Synonymous[Gly80Gly] |
350
..
350
|
A/G |
rs140145449
|
+ |
CDS |
Synonymous[Glu85Glu] |
355
..
355
|
C/T |
rs11546379
|
+ |
CDS |
Nonsynonymous[Thr87Ile] |
360
..
360
|
G/A |
rs11546386
|
+ |
CDS |
Nonsynonymous[Gly89Arg] |
392
..
392
|
T/C |
rs149432700
|
+ |
CDS |
Synonymous[Asp99Asp] |
411
..
411
|
T/C |
rs202213296
|
+ |
CDS |
Nonsynonymous[Ser106Pro] |
419
..
419
|
T/G |
rs150049700
|
+ |
CDS |
Nonsynonymous[Asp108Glu] |
497
..
497
|
T/C |
rs145899486
|
+ |
CDS |
Synonymous[Pro134Pro] |
563
..
563
|
G/A |
rs147791783
|
+ |
CDS |
Synonymous[Ala156Ala] |
570
..
570
|
G/C |
rs200814967
|
+ |
CDS |
Nonsynonymous[Glu159Gln] |
578
..
578
|
C/T |
rs2359156
|
+ |
CDS |
Synonymous[Cys161Cys] |
627
..
627
|
G/A |
rs201807235
|
+ |
CDS |
Nonsynonymous[Val178Ile] |
638
..
638
|
A/T |
rs182342432
|
+ |
CDS |
Synonymous[Gly181Gly] |
738
..
738
|
C/T |
rs143558392
|
+ |
CDS |
AA-STOP[Gln215*] |
766
..
766
|
A/G |
rs200556695
|
+ |
CDS |
Nonsynonymous[Lys224Arg] |
816
..
816
|
T/C |
rs199944175
|
+ |
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 |
|