Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
18
..
18
|
A/G |
rs55948105
|
+ |
5'UTR |
|
40
..
40
|
C/T |
rs75412946
|
+ |
5'UTR |
|
41
..
41
|
G/A |
rs72549340
|
+ |
5'UTR |
|
109
..
109
|
T/C |
rs188396376
|
+ |
5'UTR |
|
192
..
192
|
G/A |
rs200493338
|
+ |
CDS |
Synonymous[Val10Val] |
198
..
198
|
C/T |
rs148398736
|
+ |
CDS |
Synonymous[Gly12Gly] |
239
..
239
|
C/G |
rs200146699
|
+ |
CDS |
Nonsynonymous[Thr26Ser] |
283
..
283
|
G/A |
rs11540967
|
+ |
CDS |
Nonsynonymous[Ala41Thr] |
290
..
290
|
G/C |
rs3738046
|
+ |
CDS |
Nonsynonymous[Arg43Thr] |
307
..
307
|
C/T |
rs2234697
|
+ |
CDS |
Nonsynonymous[Arg49Cys] |
327
..
327
|
G/A |
rs182154631
|
+ |
CDS |
Synonymous[Thr55Thr] |
337
..
337
|
G/T |
rs11540969
|
+ |
CDS |
AA-STOP[Glu59*] |
352
..
352
|
C/A |
rs146362595
|
+ |
CDS |
Nonsynonymous[His64Asn] |
366
..
366
|
T/C |
rs2234698
|
+ |
CDS |
Synonymous[Asp68Asp] |
373
..
373
|
C/T |
rs148240980
|
+ |
CDS |
Nonsynonymous[Arg71Cys] |
374
..
374
|
G/A |
rs58623835
|
+ |
CDS |
Nonsynonymous[Arg71His] |
393
..
393
|
G/A |
rs55798709
|
+ |
CDS |
Synonymous[Glu77Glu] |
408
..
408
|
C/G |
rs145942697
|
+ |
CDS |
Nonsynonymous[His82Gln] |
426
..
426
|
C/T |
rs139835798
|
+ |
CDS |
Synonymous[Asn88Asn] |
452
..
452
|
G/A |
rs4986931
|
+ |
CDS |
AA-STOP[Trp97*] |
465
..
465
|
T/C |
rs2234699
|
+ |
CDS |
Synonymous[Phe101Phe] |
481
..
481
|
G/C |
rs200804772
|
+ |
CDS |
Nonsynonymous[Val107Leu] |
497
..
497
|
G/A |
rs145813024
|
+ |
CDS |
Nonsynonymous[Arg112Lys] |
499
..
499
|
T/C |
rs1051740
|
+ |
CDS |
Nonsynonymous[Tyr113His] |
512
..
512
|
A/G |
rs67892231
|
+ |
CDS |
Nonsynonymous[Lys117Arg] |
519
..
519
|
G/A |
rs1131873
|
+ |
CDS |
Synonymous[Lys119Lys] |
519
..
519
|
G/A |
rs2292566
|
+ |
CDS |
Synonymous[Lys119Lys] |
545
..
545
|
T/C |
rs138091095
|
+ |
CDS |
Nonsynonymous[Ile128Thr] |
549
..
549
|
C/A/T |
rs112721617
|
+ |
CDS |
|
571
..
571
|
G/A |
rs141157588
|
+ |
CDS |
Nonsynonymous[Ala137Thr] |
577
..
577
|
C/T |
rs55784606
|
+ |
CDS |
Nonsynonymous[His139Tyr] |
578
..
578
|
A/G |
rs2234922
|
+ |
CDS |
Nonsynonymous[His139Arg] |
615
..
615
|
C/T |
rs147296174
|
+ |
CDS |
Synonymous[Pro151Pro] |
618
..
618
|
C/T |
rs144904318
|
+ |
CDS |
Synonymous[Gly152Gly] |
627
..
627
|
C/T |
rs199979074
|
+ |
CDS |
Synonymous[Tyr155Tyr] |
656
..
656
|
C/T |
rs139835141
|
+ |
CDS |
Nonsynonymous[Thr165Ile] |
685
..
685
|
G/A |
rs151050888
|
+ |
CDS |
Nonsynonymous[Glu175Lys] |
745
..
745
|
T/C |
rs140788022
|
+ |
CDS |
Nonsynonymous[Ser195Pro] |
799
..
799
|
C/T |
rs112886664
|
+ |
CDS |
Synonymous[Leu213Leu] |
848
..
848
|
C/T |
rs138769642
|
+ |
CDS |
Nonsynonymous[Ser229Phe] |
866
..
866
|
T/C |
rs148810909
|
+ |
CDS |
Nonsynonymous[Met235Thr] |
892
^
893
|
-/A |
rs66903687
|
+ |
CDS |
|
893
..
893
|
A/G |
rs141680636
|
+ |
CDS |
Nonsynonymous[Lys244Arg] |
903
..
903
|
C/T |
rs34143170
|
+ |
CDS |
Synonymous[His247His] |
904
^
905
|
-/TT |
rs56132313
|
+ |
CDS |
|
924
..
924
|
A/G |
rs35561387
|
+ |
CDS |
Synonymous[Leu254Leu] |
930
..
930
|
C/A |
rs56300109
|
+ |
CDS |
Nonsynonymous[Asn256Lys] |
934
..
934
|
T/G |
rs148730399
|
+ |
CDS |
Nonsynonymous[Ser258Ala] |
940
..
940
|
C/T |
rs35967527
|
+ |
CDS |
Synonymous[Leu260Leu] |
945
..
945
|
C/T |
rs146743027
|
+ |
CDS |
Synonymous[Thr261Thr] |
985
..
985
|
A/G |
rs35073925
|
+ |
CDS |
Nonsynonymous[Thr275Ala] |
1014
..
1014
|
C/T |
rs2292568
|
+ |
CDS |
Synonymous[Pro284Pro] |
1015
..
1015
|
G/C |
rs45449793
|
+ |
CDS |
Nonsynonymous[Val285Leu] |
1032
..
1032
|
C/T |
rs1803538
|
+ |
CDS |
Synonymous[Phe290Phe] |
1090
..
1090
|
G/A |
rs143164964
|
+ |
CDS |
Nonsynonymous[Val310Ile] |
1218
..
1218
|
C/T |
rs140207745
|
+ |
CDS |
Synonymous[Asp352Asp] |
1233
..
1233
|
C/T |
rs1051741
|
+ |
CDS |
Synonymous[Asn357Asn] |
1283
..
1283
|
A/C |
rs72549341
|
+ |
CDS |
Nonsynonymous[Tyr374Ser] |
1323
..
1323
|
T/A |
rs2137841
|
- |
CDS |
Nonsynonymous[His387Gln] |
1326
..
1326
|
G/A |
rs150700932
|
+ |
CDS |
Synonymous[Glu388Glu] |
1378
..
1378
|
T/C |
rs2234700
|
+ |
CDS |
Synonymous[Leu406Leu] |
1385
..
1385
|
C/T |
rs45495897
|
+ |
CDS |
Nonsynonymous[Thr408Met] |
1401
..
1401
|
G/A |
rs45540739
|
+ |
CDS |
Synonymous[Val413Val] |
1404
..
1404
|
G/A |
rs142674326
|
+ |
CDS |
Synonymous[Arg414Arg] |
1410
..
1410
|
G/A |
rs4149229
|
+ |
CDS |
Synonymous[Lys416Lys] |
1444
..
1444
|
C/T |
rs199757500
|
+ |
CDS |
Nonsynonymous[Arg428Cys] |
1445
..
1445
|
G/A |
rs141221713
|
+ |
CDS |
Nonsynonymous[Arg428His] |
1461
..
1461
|
G/A |
rs45550332
|
+ |
CDS |
Synonymous[Ala433Ala] |
1476
..
1476
|
G/A |
rs45464298
|
+ |
CDS |
Synonymous[Pro438Pro] |
1503
..
1503
|
G/A |
rs202036186
|
+ |
CDS |
Synonymous[Lys447Lys] |
1512
..
1512
|
G/C |
rs4149230
|
+ |
CDS |
Synonymous[Ser450Ser] |
1517
..
1517
|
T/A |
rs45563137
|
+ |
CDS |
Nonsynonymous[Leu452Gln] |
1523
..
1523
|
G/A |
rs2234701
|
+ |
CDS |
Nonsynonymous[Arg454Gln] |
1545
..
1545
|
C/G |
rs200292137
|
+ |
3'UTR |
|
1564
..
1564
|
C/T |
rs201119273
|
+ |
3'UTR |
|
1565
..
1565
|
A/C |
rs4653695
|
+ |
3'UTR |
|
1627
..
1627
|
C/T |
rs191971826
|
+ |
3'UTR |
|
1655
..
1655
|
C/T |
rs71646751
|
+ |
3'UTR |
|
1664
..
1665
|
TC/CA |
rs71574541
|
+ |
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 |
|