Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
46
..
46
|
C/T |
rs140659649
|
+ |
5'UTR |
|
73
..
73
|
G/A |
rs202042555
|
+ |
CDS |
Nonsynonymous[Arg9Gln] |
87
..
87
|
C/T |
rs143340083
|
+ |
CDS |
Nonsynonymous[Leu14Phe] |
126
..
126
|
C/T |
rs61344341
|
+ |
CDS |
Nonsynonymous[Pro27Ser] |
135
..
135
|
C/T |
rs148746042
|
+ |
CDS |
Nonsynonymous[Pro30Ser] |
148
..
148
|
C/A |
rs141395815
|
+ |
CDS |
Nonsynonymous[Pro34His] |
156
..
156
|
A/G |
rs139959335
|
+ |
CDS |
Nonsynonymous[Met37Val] |
180
..
180
|
G/T |
rs146722075
|
+ |
CDS |
Nonsynonymous[Ala45Ser] |
183
..
183
|
G/- |
rs35601433
|
+ |
CDS |
|
192
..
192
|
C/T |
rs149932567
|
+ |
CDS |
Nonsynonymous[Arg49Cys] |
195
^
196
|
-/G |
rs35950410
|
+ |
CDS |
|
272
..
272
|
A/G |
rs142437672
|
+ |
CDS |
Synonymous[Gln75Gln] |
280
..
280
|
C/G |
rs201231738
|
+ |
CDS |
Nonsynonymous[Thr78Ser] |
355
..
355
|
G/A |
rs145739027
|
+ |
CDS |
Nonsynonymous[Arg103Gln] |
375
..
375
|
A/G |
rs12612365
|
+ |
CDS |
Nonsynonymous[Ile110Val] |
376
..
376
|
T/C |
rs199581978
|
+ |
CDS |
Nonsynonymous[Ile110Thr] |
381
..
381
|
G/T |
rs147124716
|
+ |
CDS |
Nonsynonymous[Ala112Ser] |
408
..
408
|
G/C |
rs200279719
|
+ |
CDS |
Nonsynonymous[Val121Leu] |
437
..
437
|
A/G |
rs201188979
|
+ |
CDS |
Synonymous[Lys130Lys] |
438
..
438
|
G/T |
rs201124084
|
+ |
CDS |
Nonsynonymous[Val131Leu] |
455
..
455
|
A/G |
rs186891171
|
+ |
CDS |
Synonymous[Thr136Thr] |
509
..
509
|
A/G |
rs192501942
|
+ |
CDS |
Synonymous[Leu154Leu] |
522
..
522
|
C/T |
rs150249098
|
+ |
CDS |
Nonsynonymous[Arg159Cys] |
597
..
597
|
C/T |
rs138776273
|
+ |
CDS |
Nonsynonymous[Arg184Cys] |
698
..
698
|
T/C |
rs146296595
|
+ |
CDS |
Synonymous[Tyr217Tyr] |
761
..
761
|
C/T |
rs113179624
|
+ |
CDS |
Synonymous[Val238Val] |
769
..
769
|
A/C |
rs117125782
|
+ |
CDS |
Nonsynonymous[Glu241Ala] |
816
..
816
|
G/A |
rs185707555
|
+ |
CDS |
Nonsynonymous[Val257Met] |
831
..
831
|
A/G |
rs141845828
|
+ |
CDS |
Nonsynonymous[Met262Val] |
848
..
848
|
C/T |
rs199820298
|
+ |
CDS |
Synonymous[Asp267Asp] |
872
..
872
|
C/T |
rs148484922
|
+ |
CDS |
Synonymous[Pro275Pro] |
885
..
885
|
A/G |
rs150990011
|
+ |
CDS |
Nonsynonymous[Asn280Asp] |
912
..
912
|
A/T |
rs147769180
|
+ |
CDS |
Nonsynonymous[Ser289Cys] |
926
..
926
|
G/A |
rs141176451
|
+ |
CDS |
Nonsynonymous[Met293Ile] |
936
..
936
|
C/T |
rs202077297
|
+ |
CDS |
Nonsynonymous[His297Tyr] |
959
..
959
|
C/T |
rs145388354
|
+ |
CDS |
Synonymous[Val304Val] |
970
..
970
|
T/C |
rs201839539
|
+ |
CDS |
Nonsynonymous[Ile308Thr] |
978
..
978
|
G/A |
rs143329395
|
+ |
CDS |
Nonsynonymous[Val311Ile] |
990
..
990
|
A/G |
rs139900748
|
+ |
CDS |
Nonsynonymous[Ile315Val] |
1011
..
1011
|
A/C |
rs2160780
|
+ |
CDS |
Nonsynonymous[Thr322Pro] |
1052
..
1052
|
A/G |
rs199581220
|
+ |
CDS |
Synonymous[Gln335Gln] |
1060
..
1060
|
C/T |
rs201306909
|
+ |
CDS |
Nonsynonymous[Ser338Leu] |
1063
..
1063
|
C/T |
rs200383884
|
+ |
CDS |
Nonsynonymous[Ser339Leu] |
1093
..
1093
|
A/G |
rs113479982
|
+ |
CDS |
Nonsynonymous[Glu349Gly] |
1105
..
1105
|
A/G |
rs138325312
|
+ |
CDS |
Nonsynonymous[His353Arg] |
1124
..
1124
|
A/G |
rs150619658
|
+ |
CDS |
Synonymous[Ser359Ser] |
1128
..
1128
|
A/G |
rs199650109
|
+ |
CDS |
Nonsynonymous[Asn361Asp] |
1130
..
1130
|
C/T |
rs143507454
|
+ |
CDS |
Synonymous[Asn361Asn] |
1135
..
1135
|
A/C |
rs151209971
|
+ |
CDS |
Nonsynonymous[His363Pro] |
1139
..
1139
|
T/C |
rs112707279
|
+ |
CDS |
Synonymous[Val364Val] |
1176
..
1176
|
G/A |
rs147367833
|
+ |
CDS |
Nonsynonymous[Ala377Thr] |
1182
..
1182
|
A/G |
rs144997139
|
+ |
CDS |
Nonsynonymous[Ile379Val] |
1230
..
1230
|
A/G |
rs190073602
|
+ |
CDS |
Nonsynonymous[Lys395Glu] |
1248
..
1248
|
G/T |
rs192912662
|
+ |
CDS |
Nonsynonymous[Ala401Ser] |
1258
..
1258
|
T/G |
rs141088778
|
+ |
CDS |
Nonsynonymous[Met404Arg] |
1298
..
1298
|
T/C |
rs202045042
|
+ |
CDS |
Synonymous[Tyr417Tyr] |
1301
..
1301
|
A/G |
rs145810685
|
+ |
CDS |
Synonymous[Ala418Ala] |
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 |
|