Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
60
..
60
|
G/A |
rs11542474
|
+ |
CDS |
Synonymous[Pro20Pro] |
106
..
106
|
T/G |
rs200939865
|
- |
CDS |
Nonsynonymous[Phe36Val] |
126
..
126
|
C/T |
rs138963047
|
- |
CDS |
Synonymous[Ser42Ser] |
127
..
127
|
A/G |
rs8068049
|
- |
CDS |
Nonsynonymous[Ser43Gly] |
158
..
158
|
A/C |
rs148934120
|
- |
CDS |
Nonsynonymous[Asp53Ala] |
165
..
165
|
A/C |
rs138756392
|
- |
CDS |
Synonymous[Leu55Leu] |
169
..
169
|
C/T |
rs150220893
|
- |
CDS |
Nonsynonymous[Arg57Cys] |
170
..
170
|
G/A |
rs141013637
|
- |
CDS |
Nonsynonymous[Arg57His] |
218
..
218
|
C/T |
rs146607194
|
- |
CDS |
Nonsynonymous[Thr73Ile] |
280
..
280
|
T/C |
rs144432364
|
- |
CDS |
Nonsynonymous[Trp94Arg] |
327
..
327
|
C/T |
rs140709694
|
- |
CDS |
Synonymous[Gly109Gly] |
382
..
382
|
T/C |
rs11542475
|
+ |
CDS |
Nonsynonymous[Tyr128His] |
394
..
394
|
G/A |
rs202013617
|
- |
CDS |
Nonsynonymous[Asp132Asn] |
399
..
399
|
C/T |
rs114851130
|
- |
CDS |
Synonymous[Ile133Ile] |
420
..
420
|
G/A |
rs111905881
|
- |
CDS |
Synonymous[Glu140Glu] |
426
..
426
|
A/G |
rs114545719
|
- |
CDS |
Synonymous[Lys142Lys] |
440
..
440
|
G/A |
rs142046999
|
- |
CDS |
Nonsynonymous[Cys147Tyr] |
518
..
518
|
T/C |
rs201008283
|
- |
CDS |
Nonsynonymous[Val173Ala] |
524
..
524
|
A/G |
rs201172041
|
- |
CDS |
Nonsynonymous[Glu175Gly] |
535
..
535
|
T/C |
rs201968689
|
- |
CDS |
Nonsynonymous[Phe179Leu] |
540
..
540
|
C/T |
rs116808712
|
- |
CDS |
Synonymous[Asp180Asp] |
541
..
541
|
G/A |
rs200090419
|
- |
CDS |
Nonsynonymous[Asp181Asn] |
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 |
|