Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
22
..
22
|
G/A |
rs200194686
|
+ |
5'UTR |
|
141
..
141
|
T/C |
rs1428439
|
- |
5'UTR |
|
149
..
149
|
T/A |
rs77888994
|
- |
5'UTR |
|
165
..
165
|
C/T |
rs144473066
|
- |
5'UTR |
|
219
..
219
|
G/T |
rs28617677
|
- |
5'UTR |
|
302
..
302
|
G/A |
rs199768560
|
- |
CDS |
Nonsynonymous[Arg7Lys] |
452
..
452
|
G/A |
rs148751339
|
- |
CDS |
Nonsynonymous[Arg57Gln] |
457
..
457
|
G/A |
rs140658602
|
- |
CDS |
Nonsynonymous[Ala59Thr] |
477
..
477
|
G/A |
rs144123874
|
- |
CDS |
Synonymous[Gln65Gln] |
542
..
542
|
G/A |
rs149573011
|
- |
CDS |
Nonsynonymous[Arg87His] |
574
..
574
|
G/A |
rs199572556
|
- |
CDS |
Nonsynonymous[Val98Ile] |
628
..
628
|
C/T |
rs138152532
|
- |
CDS |
Nonsynonymous[Arg116Trp] |
629
..
629
|
G/A |
rs150785295
|
- |
CDS |
Nonsynonymous[Arg116Gln] |
633
..
633
|
A/T |
rs111610860
|
- |
CDS |
Synonymous[Thr117Thr] |
757
..
757
|
G/A |
rs200594223
|
- |
CDS |
Nonsynonymous[Glu159Lys] |
774
..
774
|
T/C |
rs138641468
|
- |
CDS |
Synonymous[Asn164Asn] |
849
..
849
|
C/T |
rs201525407
|
- |
CDS |
Synonymous[Thr189Thr] |
883
..
883
|
G/A |
rs144812419
|
- |
CDS |
Nonsynonymous[Gly201Ser] |
884
..
884
|
G/A |
rs184109088
|
- |
CDS |
Nonsynonymous[Gly201Asp] |
885
..
885
|
C/T |
rs191662668
|
- |
CDS |
Synonymous[Gly201Gly] |
939
..
939
|
T/C |
rs140878740
|
- |
CDS |
Synonymous[Asn219Asn] |
1080
..
1080
|
T/C |
rs148019074
|
- |
CDS |
Synonymous[Gly266Gly] |
1116
..
1116
|
C/T |
rs143503881
|
- |
CDS |
Synonymous[Pro278Pro] |
1161
..
1161
|
T/A |
rs148811953
|
- |
CDS |
Nonsynonymous[Asp293Glu] |
1171
..
1171
|
C/T |
rs145473445
|
- |
CDS |
Synonymous[Leu297Leu] |
1215
..
1215
|
G/A |
rs147105549
|
- |
CDS |
Synonymous[Ala311Ala] |
1298
..
1298
|
C/T |
rs141895424
|
- |
CDS |
Nonsynonymous[Thr339Ile] |
1312
..
1312
|
C/A |
rs200429642
|
- |
CDS |
Nonsynonymous[His344Asn] |
1333
..
1333
|
C/A |
rs181265141
|
- |
CDS |
Nonsynonymous[Leu351Met] |
1343
..
1343
|
G/A |
rs147924375
|
- |
CDS |
Nonsynonymous[Gly354Glu] |
1502
..
1502
|
A/G |
rs113309201
|
- |
3'UTR |
|
1515
..
1515
|
G/A |
rs3076
|
- |
3'UTR |
|
1529
..
1529
|
G/A |
rs141593443
|
- |
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 |
|