Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
13
..
13
|
T/C |
rs149576156
|
+ |
CDS |
Nonsynonymous[Cys5Arg] |
26
..
26
|
C/T |
rs147301494
|
+ |
CDS |
Nonsynonymous[Ser9Phe] |
31
..
31
|
G/A |
rs4981088
|
+ |
CDS |
Nonsynonymous[Val11Ile] |
63
..
63
|
C/T |
rs144948652
|
+ |
CDS |
Synonymous[Asp21Asp] |
69
..
69
|
G/C |
rs77418176
|
+ |
CDS |
Nonsynonymous[Lys23Asn] |
78
..
78
|
G/C |
rs4981823
|
+ |
CDS |
Synonymous[Ser26Ser] |
97
..
97
|
C/A |
rs77997988
|
+ |
CDS |
Nonsynonymous[Gln33Lys] |
97
^
98
|
-/A |
rs150549668
|
+ |
CDS |
|
98
^
99
|
-/A |
rs61106173
|
+ |
CDS |
|
111
..
111
|
C/G |
rs139965904
|
+ |
CDS |
Nonsynonymous[Phe37Leu] |
232
..
232
|
G/A |
rs76496435
|
+ |
CDS |
Nonsynonymous[Val78Met] |
310
..
310
|
T/C |
rs202096134
|
+ |
CDS |
Nonsynonymous[Ser104Pro] |
346
..
346
|
C/T |
rs199984570
|
+ |
CDS |
Nonsynonymous[Pro116Ser] |
364
^
365
|
-/G |
rs200369516
|
+ |
CDS |
|
366
..
366
|
C/G |
rs200876108
|
+ |
CDS |
Nonsynonymous[Cys122Trp] |
366
^
367
|
-/A |
rs77577169
|
+ |
CDS |
|
367
..
367
|
A/- |
rs77164062
|
+ |
CDS |
|
367
^
368
|
-/A |
rs55781225
|
+ |
CDS |
|
373
..
373
|
G/A |
rs77471263
|
+ |
CDS |
Nonsynonymous[Gly125Ser] |
375
..
375
|
C/G |
rs74538160
|
+ |
CDS |
Synonymous[Gly125Gly] |
379
..
379
|
G/A |
rs138490130
|
+ |
CDS |
Nonsynonymous[Val127Met] |
410
..
410
|
C/T |
rs140202976
|
+ |
CDS |
Nonsynonymous[Pro137Leu] |
443
..
443
|
T/C |
rs200606863
|
+ |
CDS |
Nonsynonymous[Val148Ala] |
466
..
466
|
A/G |
rs144021633
|
+ |
CDS |
Nonsynonymous[Arg156Gly] |
467
..
467
|
G/A |
rs112959092
|
+ |
CDS |
Nonsynonymous[Arg156Lys] |
552
..
552
|
C/T |
rs146491252
|
+ |
CDS |
Synonymous[Phe184Phe] |
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 |
|