Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
9
..
9
|
C/T |
rs185729024
|
+ |
5'UTR |
|
20
..
20
|
T/C |
rs190550140
|
+ |
5'UTR |
|
25
..
25
|
A/G |
rs1833352
|
- |
5'UTR |
|
240
..
240
|
A/T |
rs181591131
|
+ |
CDS |
Synonymous[Ile40Ile] |
243
..
243
|
C/G |
rs113765635
|
+ |
CDS |
Nonsynonymous[Phe41Leu] |
246
..
246
|
A/G |
rs72485375
|
+ |
CDS |
Nonsynonymous[Ile42Met] |
269
..
269
|
G/A |
rs11885237
|
+ |
CDS |
Nonsynonymous[Arg50His] |
278
..
278
|
C/T |
rs184654267
|
+ |
CDS |
Nonsynonymous[Pro53Leu] |
292
..
292
|
C/T |
rs202237148
|
+ |
CDS |
Nonsynonymous[Leu58Phe] |
346
..
346
|
G/T |
rs72485376
|
+ |
CDS |
Nonsynonymous[Gly76Trp] |
420
..
420
|
C/T |
rs139521576
|
+ |
CDS |
Synonymous[Gly100Gly] |
451
^
452
|
-/T |
rs35074164
|
+ |
CDS |
|
455
..
455
|
G/A |
rs149681147
|
+ |
CDS |
Nonsynonymous[Gly112Glu] |
457
..
457
|
G/A |
rs34797997
|
+ |
CDS |
Nonsynonymous[Val113Met] |
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 |
|