Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
54
..
54
|
T/C |
rs2992334
|
+ |
5'UTR |
|
132
..
132
|
G/T |
rs146489691
|
+ |
CDS |
Nonsynonymous[Met11Ile] |
180
..
180
|
A/T |
rs200343167
|
+ |
CDS |
Synonymous[Gly27Gly] |
197
..
197
|
C/T |
rs201471966
|
+ |
CDS |
Nonsynonymous[Pro33Leu] |
307
..
307
|
G/C |
rs140570947
|
+ |
CDS |
Nonsynonymous[Asp70His] |
320
..
320
|
A/G |
rs143713067
|
+ |
CDS |
Nonsynonymous[Asp74Gly] |
346
..
346
|
A/G/T |
rs45596737
|
+ |
CDS |
|
382
..
382
|
C/T |
rs138851282
|
+ |
CDS |
Nonsynonymous[His95Tyr] |
406
..
406
|
A/G |
rs148086849
|
+ |
CDS |
Nonsynonymous[Ile103Val] |
440
..
440
|
C/A |
rs77374840
|
+ |
CDS |
Nonsynonymous[Thr114Lys] |
489
..
489
|
T/C |
rs184492475
|
+ |
CDS |
Synonymous[Pro130Pro] |
492
..
492
|
A/C |
rs200684484
|
+ |
CDS |
Synonymous[Pro131Pro] |
498
..
498
|
C/T |
rs149374062
|
+ |
CDS |
Synonymous[Ala133Ala] |
501
..
501
|
T/C |
rs184323036
|
+ |
CDS |
Synonymous[Asp134Asp] |
512
..
512
|
A/C |
rs201918022
|
- |
CDS |
Nonsynonymous[Asp138Ala] |
571
..
571
|
G/A |
rs113442503
|
+ |
CDS |
Nonsynonymous[Ala158Thr] |
576
..
576
|
G/A |
rs61758872
|
+ |
CDS |
Synonymous[Lys159Lys] |
597
..
597
|
G/A |
rs117705625
|
+ |
CDS |
Synonymous[Ala166Ala] |
615
..
615
|
G/A |
rs139379193
|
+ |
CDS |
Synonymous[Glu172Glu] |
633
..
633
|
C/T |
rs143340134
|
+ |
CDS |
Synonymous[Leu178Leu] |
711
..
711
|
G/A |
rs147500538
|
+ |
CDS |
Synonymous[Leu204Leu] |
714
..
714
|
C/T |
rs35413798
|
- |
CDS |
Synonymous[Asp205Asp] |
723
..
723
|
C/T |
rs149483004
|
+ |
CDS |
Synonymous[Phe208Phe] |
746
..
746
|
A/G |
rs143975736
|
+ |
CDS |
Nonsynonymous[Asn216Ser] |
748
..
748
|
G/A |
rs148607337
|
+ |
CDS |
Nonsynonymous[Val217Ile] |
777
..
777
|
G/A |
rs142075664
|
+ |
CDS |
Synonymous[Pro226Pro] |
808
..
808
|
C/G |
rs199925378
|
+ |
CDS |
Nonsynonymous[His237Asp] |
849
..
849
|
C/T |
rs61757707
|
+ |
CDS |
Synonymous[Asp250Asp] |
906
..
906
|
C/T |
rs151148433
|
+ |
CDS |
Synonymous[Asn269Asn] |
923
..
923
|
T/G |
rs139373674
|
+ |
CDS |
Nonsynonymous[Leu275Trp] |
1011
..
1011
|
T/C |
rs191914671
|
+ |
CDS |
Synonymous[Cys304Cys] |
1021
..
1021
|
A/G |
rs183760736
|
+ |
CDS |
Nonsynonymous[Ile308Val] |
1023
..
1023
|
C/T |
rs144153688
|
+ |
CDS |
Synonymous[Ile308Ile] |
1109
..
1109
|
C/T |
rs11015158
|
+ |
CDS |
Nonsynonymous[Ser337Phe] |
1129
..
1129
|
A/C |
rs201000363
|
+ |
CDS |
Nonsynonymous[Lys344Gln] |
1161
..
1161
|
G/A/C |
rs112949623
|
+ |
CDS |
|
1227
..
1227
|
G/A |
rs200189959
|
+ |
CDS |
Synonymous[Ala376Ala] |
1309
..
1309
|
A/G |
rs34081356
|
- |
CDS |
Nonsynonymous[Thr404Ala] |
1327
..
1327
|
T/C |
rs141063068
|
+ |
CDS |
Nonsynonymous[Trp410Arg] |
1330
..
1330
|
G/A |
rs113690931
|
+ |
CDS |
Nonsynonymous[Val411Ile] |
1332
..
1332
|
C/G |
rs150008003
|
+ |
CDS |
Synonymous[Val411Val] |
1365
..
1365
|
T/G |
rs145279460
|
+ |
CDS |
Synonymous[Thr422Thr] |
1384
..
1384
|
C/T |
rs143061604
|
+ |
CDS |
Nonsynonymous[Arg429Trp] |
1439
..
1439
|
A/G |
rs148216770
|
+ |
CDS |
Nonsynonymous[Asn447Ser] |
1444
..
1444
|
G/A |
rs143224011
|
+ |
CDS |
Nonsynonymous[Ala449Thr] |
1463
..
1463
|
C/T |
rs139055302
|
+ |
CDS |
Nonsynonymous[Ser455Phe] |
1497
..
1497
|
T/C |
rs201063855
|
+ |
CDS |
Synonymous[Asn466Asn] |
1535
..
1535
|
T/C |
rs200319514
|
+ |
CDS |
Nonsynonymous[Val479Ala] |
1569
..
1569
|
G/A |
rs199535099
|
+ |
CDS |
Synonymous[Ser490Ser] |
1593
..
1593
|
G/A |
rs201942833
|
+ |
CDS |
Synonymous[Gly498Gly] |
1638
..
1638
|
G/C |
rs114997244
|
+ |
CDS |
Nonsynonymous[Lys513Asn] |
1687
..
1687
|
G/T |
rs200232575
|
+ |
CDS |
Nonsynonymous[Gly530Cys] |
1948
..
1948
|
G/A |
rs7903226
|
+ |
CDS |
Nonsynonymous[Ala617Thr] |
1964
..
1964
|
C/T |
rs200114349
|
+ |
CDS |
Nonsynonymous[Ala622Val] |
2097
..
2097
|
C/T |
rs150768801
|
+ |
CDS |
Synonymous[Ser666Ser] |
2112
..
2112
|
A/G |
rs199822653
|
+ |
3'UTR |
|
2123
..
2123
|
A/G |
rs201918276
|
+ |
3'UTR |
|
2197
..
2197
|
A/G |
rs74128352
|
+ |
3'UTR |
|
2368
..
2368
|
T/G |
rs192656870
|
+ |
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 |
|