Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
11
..
11
|
G/T |
rs200372770
|
+ |
CDS |
Nonsynonymous[Arg4Leu] |
12
..
12
|
G/T |
rs201163165
|
+ |
CDS |
Synonymous[Arg4Arg] |
132
..
132
|
C/T |
rs140108357
|
+ |
CDS |
Synonymous[Asn44Asn] |
186
..
186
|
C/T |
rs17862175
|
+ |
CDS |
Synonymous[Asp62Asp] |
187
..
187
|
G/A |
rs200164858
|
+ |
CDS |
Nonsynonymous[Gly63Arg] |
210
..
210
|
C/T |
rs185427290
|
+ |
CDS |
Synonymous[Tyr70Tyr] |
231
..
231
|
A/G |
rs200281270
|
+ |
CDS |
Synonymous[Ser77Ser] |
292
..
292
|
A/G |
rs76988207
|
+ |
CDS |
Nonsynonymous[Met98Val] |
315
..
315
|
G/T |
rs79632494
|
+ |
CDS |
Synonymous[Leu105Leu] |
348
..
348
|
G/A |
rs34378679
|
- |
CDS |
Synonymous[Ser116Ser] |
365
..
365
|
T/A |
rs146056566
|
+ |
CDS |
Nonsynonymous[Leu122Gln] |
473
..
473
|
A/G |
rs139669349
|
+ |
CDS |
Nonsynonymous[Asn158Ser] |
553
..
553
|
C/T |
rs149798695
|
+ |
CDS |
Synonymous[Leu185Leu] |
579
..
579
|
T/G |
rs144717277
|
+ |
CDS |
Nonsynonymous[Phe193Leu] |
594
..
594
|
A/T |
rs148668482
|
+ |
CDS |
Synonymous[Thr198Thr] |
600
..
600
|
A/G |
rs142157384
|
+ |
CDS |
Synonymous[Lys200Lys] |
667
..
667
|
C/T |
rs189780617
|
+ |
CDS |
Nonsynonymous[Pro223Ser] |
676
..
676
|
G/A |
rs147857522
|
+ |
CDS |
Nonsynonymous[Ala226Thr] |
679
..
679
|
C/T |
rs141430153
|
+ |
CDS |
Nonsynonymous[Arg227Cys] |
701
..
701
|
A/C |
rs145275926
|
+ |
CDS |
Nonsynonymous[Glu234Ala] |
767
..
767
|
C/A |
rs182726869
|
+ |
3'UTR |
|
775
..
775
|
C/G |
rs147269114
|
+ |
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 |
|