Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
112
..
112
|
T/C |
rs147672857
|
- |
CDS |
Synonymous[Leu28Leu] |
125
..
125
|
C/A |
rs75648600
|
- |
CDS |
Nonsynonymous[Thr32Asn] |
185
..
185
|
G/A |
rs147635402
|
- |
CDS |
Nonsynonymous[Gly52Asp] |
237
..
237
|
T/C |
rs113061226
|
- |
CDS |
Synonymous[Gly69Gly] |
286
..
286
|
T/C |
rs151183639
|
- |
CDS |
Nonsynonymous[Phe86Leu] |
330
..
330
|
C/G |
rs148040063
|
- |
CDS |
Nonsynonymous[Asp100Glu] |
365
..
365
|
A/C |
rs201841965
|
- |
CDS |
Nonsynonymous[Gln112Pro] |
402
..
402
|
T/C |
rs145950712
|
- |
CDS |
Synonymous[Asn124Asn] |
406
..
406
|
A/T |
rs6715812
|
- |
CDS |
Nonsynonymous[Ile126Leu] |
413
..
413
|
C/T |
rs151112282
|
- |
CDS |
Nonsynonymous[Thr128Met] |
445
..
445
|
C/T |
rs141899370
|
- |
CDS |
Nonsynonymous[Arg139Trp] |
446
..
446
|
G/A |
rs147043490
|
- |
CDS |
Nonsynonymous[Arg139Gln] |
455
..
455
|
T/A |
rs190387950
|
- |
CDS |
Nonsynonymous[Val142Asp] |
458
..
458
|
T/A |
rs138992614
|
- |
CDS |
AA-STOP[Leu143*] |
468
..
468
|
G/A |
rs113569095
|
- |
CDS |
Synonymous[Glu146Glu] |
534
..
534
|
G/A |
rs6754977
|
- |
CDS |
Synonymous[Leu168Leu] |
558
..
558
|
A/G |
rs146453631
|
- |
CDS |
Synonymous[Arg176Arg] |
571
..
571
|
C/T |
rs150706097
|
- |
CDS |
Nonsynonymous[His181Tyr] |
742
..
742
|
C/T |
rs192434665
|
- |
CDS |
Nonsynonymous[Arg238Trp] |
887
..
887
|
G/A |
rs56349597
|
- |
CDS |
Nonsynonymous[Arg286His] |
927
..
927
|
G/A |
rs200267339
|
- |
CDS |
Synonymous[Thr299Thr] |
975
..
975
|
A/C |
rs201993219
|
- |
CDS |
Synonymous[Val315Val] |
979
..
979
|
C/T |
rs142199742
|
- |
CDS |
Nonsynonymous[Arg317Cys] |
980
..
980
|
G/A |
rs145092752
|
- |
CDS |
Nonsynonymous[Arg317His] |
1019
..
1019
|
G/A |
rs145246801
|
- |
CDS |
Nonsynonymous[Gly330Glu] |
1022
..
1022
|
T/C |
rs56284052
|
- |
CDS |
Nonsynonymous[Ile331Thr] |
1048
..
1048
|
G/T |
rs200326947
|
- |
CDS |
Nonsynonymous[Ala340Ser] |
1162
..
1162
|
C/T |
rs139473560
|
- |
CDS |
Nonsynonymous[Arg378Trp] |
1232
..
1232
|
C/T |
rs147832465
|
- |
CDS |
Nonsynonymous[Ser401Phe] |
1240
..
1240
|
A/G |
rs140447534
|
- |
CDS |
Nonsynonymous[Arg404Gly] |
1263
..
1263
|
C/T |
rs149473090
|
- |
CDS |
Synonymous[Ile411Ile] |
1271
..
1271
|
A/G |
rs186711668
|
- |
CDS |
Nonsynonymous[His414Arg] |
1353
..
1353
|
G/C |
rs150711518
|
- |
CDS |
Nonsynonymous[Gln441His] |
1394
^
1395
|
-/G |
rs34667488
|
- |
CDS |
|
1404
..
1404
|
A/T |
rs142282210
|
- |
CDS |
Nonsynonymous[Arg458Ser] |
1419
..
1419
|
C/T |
rs187643783
|
- |
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 |
|