Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
24
..
24
|
C/T |
rs148972615
|
- |
5'UTR |
|
26
..
26
|
C/T |
rs189446623
|
- |
5'UTR |
|
175
..
175
|
C/T |
rs145667180
|
- |
CDS |
Nonsynonymous[Arg38Cys] |
205
..
205
|
G/C |
rs199504000
|
- |
CDS |
Nonsynonymous[Val48Leu] |
216
..
216
|
G/C |
rs201237444
|
- |
CDS |
Nonsynonymous[Glu51Asp] |
225
..
225
|
C/T |
rs118060916
|
- |
CDS |
Synonymous[Ser54Ser] |
226
..
226
|
G/A |
rs145878095
|
- |
CDS |
Nonsynonymous[Glu55Lys] |
237
..
237
|
T/G |
rs199899317
|
- |
CDS |
Synonymous[Leu58Leu] |
240
..
240
|
C/T |
rs139849464
|
- |
CDS |
Synonymous[Gly59Gly] |
241
..
241
|
G/T |
rs142091873
|
- |
CDS |
Nonsynonymous[Gly60Cys] |
244
..
244
|
C/T |
rs115242113
|
- |
CDS |
Synonymous[Leu61Leu] |
253
..
253
|
C/T |
rs140103131
|
- |
CDS |
Nonsynonymous[Arg64Trp] |
337
..
337
|
C/T |
rs201340875
|
- |
CDS |
Nonsynonymous[Arg92Trp] |
370
..
370
|
C/T |
rs138113288
|
- |
CDS |
AA-STOP[Gln103*] |
373
..
373
|
T/C |
rs149303529
|
- |
CDS |
Nonsynonymous[Cys104Arg] |
409
..
409
|
G/A |
rs35216783
|
- |
CDS |
Nonsynonymous[Asp116Asn] |
420
..
420
|
C/T |
rs1774079
|
- |
CDS |
Synonymous[Thr119Thr] |
422
..
422
|
C/T |
rs138344238
|
- |
CDS |
Nonsynonymous[Pro120Leu] |
423
..
423
|
G/A |
rs141897650
|
- |
CDS |
Synonymous[Pro120Pro] |
425
..
425
|
T/G |
rs61752488
|
- |
CDS |
Nonsynonymous[Val121Gly] |
427
..
427
|
G/A |
rs138337504
|
- |
CDS |
Nonsynonymous[Glu122Lys] |
475
..
475
|
G/A |
rs2231198
|
+ |
CDS |
Nonsynonymous[Val138Met] |
501
..
501
|
A/C |
rs139064823
|
- |
CDS |
Synonymous[Ala146Ala] |
517
..
517
|
G/A |
rs141306786
|
- |
CDS |
Nonsynonymous[Glu152Lys] |
540
..
540
|
C/T |
rs144038063
|
- |
CDS |
Synonymous[Ser159Ser] |
544
..
544
|
G/A |
rs138381490
|
- |
CDS |
Nonsynonymous[Gly161Ser] |
556
..
556
|
C/T |
rs143014551
|
- |
CDS |
Nonsynonymous[Pro165Ser] |
564
..
564
|
C/G |
rs17852284
|
- |
CDS |
Synonymous[Val167Val] |
596
..
596
|
A/G |
rs151100364
|
- |
CDS |
Nonsynonymous[Gln178Arg] |
606
..
606
|
G/A |
rs140933903
|
- |
CDS |
Synonymous[Thr181Thr] |
642
..
642
|
G/T |
rs144024296
|
- |
CDS |
Nonsynonymous[Arg193Ser] |
680
..
680
|
C/T |
rs201215326
|
- |
CDS |
Nonsynonymous[Thr206Ile] |
681
..
681
|
C/T |
rs145436915
|
- |
CDS |
Synonymous[Thr206Thr] |
684
..
684
|
C/T |
rs200534957
|
- |
CDS |
Synonymous[Gly207Gly] |
706
..
706
|
G/A |
rs1738023
|
+ |
CDS |
Nonsynonymous[Asp215Asn] |
708
..
708
|
T/C |
rs1738024
|
+ |
CDS |
Synonymous[Asp215Asp] |
720
..
720
|
C/T |
rs1065658
|
+ |
CDS |
Synonymous[Pro219Pro] |
789
..
789
|
T/C |
rs116050237
|
- |
CDS |
Synonymous[Phe242Phe] |
825
..
825
|
C/T |
rs149649188
|
- |
CDS |
Synonymous[Ala254Ala] |
827
..
827
|
C/T |
rs145872076
|
- |
CDS |
Nonsynonymous[Ala255Val] |
828
..
828
|
G/T |
rs146835084
|
- |
CDS |
Synonymous[Ala255Ala] |
840
..
840
|
C/T |
rs182478203
|
- |
CDS |
Synonymous[Ser259Ser] |
858
..
858
|
G/A |
rs140288397
|
- |
CDS |
Synonymous[Ser265Ser] |
887
..
887
|
C/T |
rs201279439
|
- |
CDS |
Nonsynonymous[Ser275Leu] |
888
..
888
|
A/G |
rs201763306
|
- |
CDS |
Synonymous[Ser275Ser] |
894
..
894
|
G/A |
rs142053998
|
- |
CDS |
Synonymous[Leu277Leu] |
898
..
898
|
G/A |
rs149120004
|
- |
CDS |
Nonsynonymous[Gly279Ser] |
906
..
906
|
C/T |
rs34949847
|
- |
CDS |
Synonymous[His281His] |
914
..
914
|
C/T |
rs144760570
|
- |
CDS |
Nonsynonymous[Ala284Val] |
922
..
922
|
C/T |
rs200264295
|
- |
CDS |
Synonymous[Leu287Leu] |
923
..
923
|
T/C |
rs150622134
|
- |
CDS |
Nonsynonymous[Leu287Pro] |
965
..
965
|
C/T |
rs148077799
|
- |
CDS |
Nonsynonymous[Ala301Val] |
966
..
966
|
G/A |
rs111742333
|
- |
CDS |
Synonymous[Ala301Ala] |
989
..
989
|
C/T |
rs145104812
|
- |
CDS |
Nonsynonymous[Pro309Leu] |
997
..
997
|
G/A |
rs148859866
|
- |
CDS |
Nonsynonymous[Val312Met] |
1002
..
1002
|
C/T |
rs17852953
|
- |
CDS |
Synonymous[Asp313Asp] |
1022
..
1022
|
A/G |
rs147831859
|
- |
CDS |
Nonsynonymous[His320Arg] |
1030
..
1030
|
G/A |
rs1738025
|
+ |
CDS |
Nonsynonymous[Ala323Thr] |
1032
..
1032
|
T/C |
rs2995181
|
- |
CDS |
Synonymous[Ala323Ala] |
1071
..
1071
|
C/T |
rs1061670
|
+ |
3'UTR |
|
1080
..
1080
|
C/T |
rs116787495
|
- |
3'UTR |
|
1089
..
1089
|
C/T |
rs1061671
|
+ |
3'UTR |
|
1092
..
1092
|
C/T |
rs1065660
|
+ |
3'UTR |
|
1095
..
1095
|
T/C |
rs191508992
|
- |
3'UTR |
|
1098
..
1098
|
C/T |
rs187424258
|
- |
3'UTR |
|
1148
..
1148
|
C/T |
rs1061672
|
+ |
3'UTR |
|
1192
..
1192
|
C/T |
rs182775256
|
- |
3'UTR |
|
1194
..
1194
|
A/C |
rs1061673
|
+ |
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 |
|