Single Nucleotide Polymorphism (SNP) and indel
|
| Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
|
18
..
18
|
C/T |
rs6681090
|
+ |
CDS |
Synonymous[Phe6Phe] |
|
128
..
128
|
C/T |
rs59388251
|
+ |
CDS |
Nonsynonymous[Thr43Ile] |
|
169
..
169
|
C/T |
rs10917661
|
+ |
CDS |
AA-STOP[Gln57*] |
|
189
..
189
|
G/A |
rs5017568
|
+ |
CDS |
Synonymous[Gln63Gln] |
|
248
..
248
|
A/C |
rs5017567
|
+ |
CDS |
Nonsynonymous[Gln83Pro] |
|
336
..
336
|
G/A |
rs6665610
|
+ |
CDS |
Synonymous[Thr112Thr] |
|
458
..
458
|
A/G |
rs61731480
|
+ |
CDS |
Nonsynonymous[His153Arg] |
|
507
..
507
|
A/C |
rs112318761
|
+ |
CDS |
Synonymous[Gly169Gly] |
|
609
..
609
|
G/A |
rs2298022
|
+ |
CDS |
Synonymous[Thr203Thr] |
|
614
..
614
|
A/T |
rs1050499
|
+ |
CDS |
Nonsynonymous[Tyr205Phe] |
|
695
..
695
|
T/C |
rs1050501
|
+ |
CDS |
Nonsynonymous[Ile232Thr] |
|
766
..
766
|
C/T |
rs28651835
|
+ |
CDS |
Nonsynonymous[Pro256Ser] |
|
891
..
891
|
C/T |
rs115842547
|
+ |
CDS |
Synonymous[His297His] |
|
902
..
902
|
T/C |
rs61804185
|
+ |
CDS |
Nonsynonymous[Leu301Pro] |
| 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 |
|