Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
8
..
8
|
A/G |
rs55948105
|
+ |
5'UTR |
|
30
..
30
|
C/T |
rs75412946
|
+ |
5'UTR |
|
31
..
31
|
G/A |
rs72549340
|
+ |
5'UTR |
|
99
..
99
|
T/C |
rs188396376
|
+ |
5'UTR |
|
182
..
182
|
G/A |
rs200493338
|
+ |
CDS |
Synonymous[Val10Val] |
188
..
188
|
C/T |
rs148398736
|
+ |
CDS |
Synonymous[Gly12Gly] |
229
..
229
|
C/G |
rs200146699
|
+ |
CDS |
Nonsynonymous[Thr26Ser] |
273
..
273
|
G/A |
rs11540967
|
+ |
CDS |
Nonsynonymous[Ala41Thr] |
280
..
280
|
G/C |
rs3738046
|
+ |
CDS |
Nonsynonymous[Arg43Thr] |
297
..
297
|
C/T |
rs2234697
|
+ |
CDS |
Nonsynonymous[Arg49Cys] |
317
..
317
|
G/A |
rs182154631
|
+ |
CDS |
Synonymous[Thr55Thr] |
327
..
327
|
G/T |
rs11540969
|
+ |
CDS |
AA-STOP[Glu59*] |
342
..
342
|
C/A |
rs146362595
|
+ |
CDS |
Nonsynonymous[His64Asn] |
356
..
356
|
T/C |
rs2234698
|
+ |
CDS |
Synonymous[Asp68Asp] |
363
..
363
|
C/T |
rs148240980
|
+ |
CDS |
Nonsynonymous[Arg71Cys] |
364
..
364
|
G/A |
rs58623835
|
+ |
CDS |
Nonsynonymous[Arg71His] |
383
..
383
|
G/A |
rs55798709
|
+ |
CDS |
Synonymous[Glu77Glu] |
398
..
398
|
C/G |
rs145942697
|
+ |
CDS |
Nonsynonymous[His82Gln] |
416
..
416
|
C/T |
rs139835798
|
+ |
CDS |
Synonymous[Asn88Asn] |
442
..
442
|
G/A |
rs4986931
|
+ |
CDS |
AA-STOP[Trp97*] |
455
..
455
|
T/C |
rs2234699
|
+ |
CDS |
Synonymous[Phe101Phe] |
471
..
471
|
G/C |
rs200804772
|
+ |
CDS |
Nonsynonymous[Val107Leu] |
487
..
487
|
G/A |
rs145813024
|
+ |
CDS |
Nonsynonymous[Arg112Lys] |
489
..
489
|
T/C |
rs1051740
|
+ |
CDS |
Nonsynonymous[Tyr113His] |
502
..
502
|
A/G |
rs67892231
|
+ |
CDS |
Nonsynonymous[Lys117Arg] |
509
..
509
|
A/G |
rs1131873
|
+ |
CDS |
Synonymous[Lys119Lys] |
509
..
509
|
A/G |
rs2292566
|
+ |
CDS |
Synonymous[Lys119Lys] |
535
..
535
|
T/C |
rs138091095
|
+ |
CDS |
Nonsynonymous[Ile128Thr] |
539
..
539
|
C/A/T |
rs112721617
|
+ |
CDS |
|
561
..
561
|
G/A |
rs141157588
|
+ |
CDS |
Nonsynonymous[Ala137Thr] |
567
..
567
|
C/T |
rs55784606
|
+ |
CDS |
Nonsynonymous[His139Tyr] |
568
..
568
|
A/G |
rs2234922
|
+ |
CDS |
Nonsynonymous[His139Arg] |
605
..
605
|
C/T |
rs147296174
|
+ |
CDS |
Synonymous[Pro151Pro] |
608
..
608
|
C/T |
rs144904318
|
+ |
CDS |
Synonymous[Gly152Gly] |
617
..
617
|
C/T |
rs199979074
|
+ |
CDS |
Synonymous[Tyr155Tyr] |
646
..
646
|
C/T |
rs139835141
|
+ |
CDS |
Nonsynonymous[Thr165Ile] |
675
..
675
|
G/A |
rs151050888
|
+ |
CDS |
Nonsynonymous[Glu175Lys] |
735
..
735
|
T/C |
rs140788022
|
+ |
CDS |
Nonsynonymous[Ser195Pro] |
789
..
789
|
C/T |
rs112886664
|
+ |
CDS |
Synonymous[Leu213Leu] |
838
..
838
|
C/T |
rs138769642
|
+ |
CDS |
Nonsynonymous[Ser229Phe] |
856
..
856
|
T/C |
rs148810909
|
+ |
CDS |
Nonsynonymous[Met235Thr] |
882
^
883
|
-/A |
rs66903687
|
+ |
CDS |
|
883
..
883
|
A/G |
rs141680636
|
+ |
CDS |
Nonsynonymous[Lys244Arg] |
893
..
893
|
C/T |
rs34143170
|
+ |
CDS |
Synonymous[His247His] |
894
^
895
|
-/TT |
rs56132313
|
+ |
CDS |
|
914
..
914
|
A/G |
rs35561387
|
+ |
CDS |
Synonymous[Leu254Leu] |
920
..
920
|
C/A |
rs56300109
|
+ |
CDS |
Nonsynonymous[Asn256Lys] |
924
..
924
|
T/G |
rs148730399
|
+ |
CDS |
Nonsynonymous[Ser258Ala] |
930
..
930
|
C/T |
rs35967527
|
+ |
CDS |
Synonymous[Leu260Leu] |
935
..
935
|
C/T |
rs146743027
|
+ |
CDS |
Synonymous[Thr261Thr] |
975
..
975
|
A/G |
rs35073925
|
+ |
CDS |
Nonsynonymous[Thr275Ala] |
1004
..
1004
|
C/T |
rs2292568
|
+ |
CDS |
Synonymous[Pro284Pro] |
1005
..
1005
|
G/C |
rs45449793
|
+ |
CDS |
Nonsynonymous[Val285Leu] |
1022
..
1022
|
C/T |
rs1803538
|
+ |
CDS |
Synonymous[Phe290Phe] |
1080
..
1080
|
G/A |
rs143164964
|
+ |
CDS |
Nonsynonymous[Val310Ile] |
1208
..
1208
|
C/T |
rs140207745
|
+ |
CDS |
Synonymous[Asp352Asp] |
1223
..
1223
|
T/C |
rs1051741
|
+ |
CDS |
Synonymous[Asn357Asn] |
1273
..
1273
|
A/C |
rs72549341
|
+ |
CDS |
Nonsynonymous[Tyr374Ser] |
1313
..
1313
|
T/A |
rs2137841
|
- |
CDS |
Nonsynonymous[His387Gln] |
1316
..
1316
|
G/A |
rs150700932
|
+ |
CDS |
Synonymous[Glu388Glu] |
1368
..
1368
|
T/C |
rs2234700
|
+ |
CDS |
Nonsynonymous[Phe406Leu] |
1375
..
1375
|
C/T |
rs45495897
|
+ |
CDS |
Nonsynonymous[Thr408Met] |
1391
..
1391
|
G/A |
rs45540739
|
+ |
CDS |
Synonymous[Val413Val] |
1394
..
1394
|
G/A |
rs142674326
|
+ |
CDS |
Synonymous[Arg414Arg] |
1400
..
1400
|
G/A |
rs4149229
|
+ |
CDS |
Synonymous[Lys416Lys] |
1434
..
1434
|
C/T |
rs199757500
|
+ |
CDS |
Nonsynonymous[Arg428Cys] |
1435
..
1435
|
G/A |
rs141221713
|
+ |
CDS |
Nonsynonymous[Arg428His] |
1451
..
1451
|
G/A |
rs45550332
|
+ |
CDS |
Synonymous[Ala433Ala] |
1466
..
1466
|
G/A |
rs45464298
|
+ |
CDS |
Synonymous[Pro438Pro] |
1493
..
1493
|
G/A |
rs202036186
|
+ |
CDS |
Synonymous[Lys447Lys] |
1502
..
1502
|
G/C |
rs4149230
|
+ |
CDS |
Synonymous[Ser450Ser] |
1507
..
1507
|
T/A |
rs45563137
|
+ |
CDS |
Nonsynonymous[Leu452Gln] |
1513
..
1513
|
G/A |
rs2234701
|
+ |
CDS |
Nonsynonymous[Arg454Gln] |
1535
..
1535
|
C/G |
rs200292137
|
+ |
3'UTR |
|
1554
..
1554
|
C/T |
rs201119273
|
+ |
3'UTR |
|
1555
..
1555
|
A/C |
rs4653695
|
+ |
3'UTR |
|
1617
..
1617
|
C/T |
rs191971826
|
+ |
3'UTR |
|
1644
..
1644
|
C/T |
rs71646751
|
+ |
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 |
|