Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
6
..
6
|
G/A |
rs201076931
|
+ |
CDS |
Synonymous[Ala2Ala] |
16
..
16
|
C/A |
rs201273667
|
+ |
CDS |
Nonsynonymous[Gln6Lys] |
60
^
61
|
-/C |
rs35600583
|
+ |
CDS |
|
70
..
70
|
C/T |
rs143092131
|
+ |
CDS |
Synonymous[Leu24Leu] |
84
..
84
|
G/A |
rs199877605
|
+ |
CDS |
Synonymous[Arg28Arg] |
86
..
86
|
C/T |
rs201429116
|
+ |
CDS |
Nonsynonymous[Ala29Val] |
115
..
115
|
G/A |
rs199737254
|
+ |
CDS |
Nonsynonymous[Glu39Lys] |
120
..
120
|
C/T |
rs147068995
|
+ |
CDS |
Synonymous[Thr40Thr] |
121
..
121
|
G/C |
rs202220769
|
+ |
CDS |
Nonsynonymous[Glu41Gln] |
162
..
162
|
G/A |
rs200646513
|
+ |
CDS |
Synonymous[Gly54Gly] |
289
..
289
|
T/G |
rs199973694
|
+ |
CDS |
Nonsynonymous[Cys97Gly] |
306
..
306
|
C/T |
rs80184002
|
+ |
CDS |
Synonymous[Ser102Ser] |
310
..
310
|
T/C |
rs11167744
|
+ |
CDS |
Nonsynonymous[Phe104Leu] |
368
..
368
|
A/G |
rs77665158
|
+ |
CDS |
Nonsynonymous[Glu123Gly] |
399
..
399
|
C/G |
rs201673318
|
+ |
CDS |
Nonsynonymous[Ser133Arg] |
504
..
504
|
C/A |
rs73792198
|
+ |
CDS |
Synonymous[Leu168Leu] |
604
..
604
|
G/C |
rs201283981
|
+ |
CDS |
Nonsynonymous[Asp202His] |
632
..
632
|
T/C |
rs138408376
|
+ |
CDS |
Nonsynonymous[Leu211Pro] |
642
..
642
|
A/G |
rs200015978
|
+ |
CDS |
Synonymous[Thr214Thr] |
714
..
714
|
T/C |
rs186605459
|
+ |
CDS |
Synonymous[Asp238Asp] |
726
..
726
|
G/A |
rs193141134
|
+ |
CDS |
Nonsynonymous[Met242Ile] |
757
..
757
|
C/G |
rs201871921
|
+ |
CDS |
Nonsynonymous[Pro253Ala] |
784
..
784
|
G/T |
rs200879435
|
+ |
CDS |
Nonsynonymous[Val262Leu] |
799
..
799
|
G/A |
rs118080774
|
+ |
CDS |
Nonsynonymous[Ala267Thr] |
977
..
977
|
G/A |
rs185669562
|
+ |
CDS |
Nonsynonymous[Gly326Glu] |
1069
..
1069
|
A/G |
rs200545713
|
+ |
CDS |
Nonsynonymous[Ile357Val] |
1082
..
1082
|
C/T |
rs199660151
|
+ |
CDS |
Nonsynonymous[Ser361Phe] |
1103
..
1103
|
C/T |
rs200342957
|
+ |
CDS |
Nonsynonymous[Ala368Val] |
1156
..
1156
|
T/C |
rs201301291
|
+ |
CDS |
Nonsynonymous[Phe386Leu] |
1208
..
1208
|
A/G |
rs199795822
|
+ |
CDS |
Nonsynonymous[Tyr403Cys] |
1209
..
1209
|
C/T |
rs200737047
|
+ |
CDS |
Synonymous[Tyr403Tyr] |
1405
..
1405
|
G/T |
rs199543811
|
+ |
CDS |
Nonsynonymous[Gly469Cys] |
1428
..
1428
|
C/T |
rs188587553
|
+ |
CDS |
Synonymous[Thr476Thr] |
1522
..
1522
|
A/G |
rs202046219
|
+ |
CDS |
Nonsynonymous[Ile508Val] |
1580
..
1580
|
G/A |
rs199507728
|
+ |
CDS |
Nonsynonymous[Arg527Gln] |
1605
..
1605
|
A/G |
rs12520854
|
+ |
CDS |
Synonymous[Ala535Ala] |
1611
..
1611
|
C/T |
rs201218542
|
+ |
CDS |
Synonymous[Asp537Asp] |
1623
..
1623
|
G/A |
rs184432819
|
+ |
CDS |
Synonymous[Pro541Pro] |
1640
..
1640
|
T/C |
rs116031289
|
+ |
CDS |
Nonsynonymous[Val547Ala] |
1657
..
1657
|
G/C |
rs202035589
|
+ |
CDS |
Nonsynonymous[Val553Leu] |
1662
..
1662
|
G/A |
rs62378455
|
+ |
CDS |
Synonymous[Leu554Leu] |
1693
..
1693
|
T/G |
rs13173779
|
+ |
CDS |
Nonsynonymous[Tyr565Asp] |
1696
..
1696
|
C/T |
rs188787674
|
+ |
CDS |
Nonsynonymous[Pro566Ser] |
1704
..
1704
|
C/T |
rs13188208
|
+ |
CDS |
Synonymous[Leu568Leu] |
1715
..
1715
|
G/T |
rs199976232
|
+ |
CDS |
Nonsynonymous[Gly572Val] |
1716
..
1716
|
C/G |
rs13188214
|
+ |
CDS |
Synonymous[Gly572Gly] |
1718
..
1718
|
C/T |
rs13188215
|
+ |
CDS |
Nonsynonymous[Ser573Phe] |
1770
..
1770
|
C/T |
rs114907564
|
+ |
CDS |
Synonymous[Thr590Thr] |
1775
..
1775
|
T/G |
rs13173820
|
+ |
CDS |
Nonsynonymous[Val592Gly] |
1824
..
1824
|
C/T |
rs200022455
|
+ |
CDS |
Synonymous[Arg608Arg] |
1826
..
1826
|
T/C |
rs200154593
|
+ |
CDS |
Nonsynonymous[Leu609Pro] |
1862
..
1862
|
G/C |
rs201821221
|
+ |
CDS |
Nonsynonymous[Gly621Ala] |
1869
..
1869
|
C/T |
rs200931939
|
+ |
CDS |
Synonymous[His623His] |
1915
..
1915
|
G/A |
rs201391904
|
+ |
CDS |
Nonsynonymous[Ala639Thr] |
1927
..
1927
|
G/A |
rs200418116
|
+ |
CDS |
Nonsynonymous[Gly643Ser] |
1983
..
1983
|
T/C |
rs149352680
|
+ |
CDS |
Synonymous[Phe661Phe] |
2082
..
2082
|
C/T |
rs143630962
|
+ |
CDS |
Synonymous[Ser694Ser] |
2083
..
2083
|
G/A |
rs114669158
|
+ |
CDS |
Nonsynonymous[Ala695Thr] |
2086
..
2086
|
C/T |
rs148119281
|
+ |
CDS |
Nonsynonymous[Arg696Cys] |
2091
..
2091
|
C/T |
rs141873183
|
+ |
CDS |
Synonymous[Tyr697Tyr] |
2094
..
2094
|
A/G |
rs2233612
|
+ |
CDS |
Synonymous[Gly698Gly] |
2116
..
2116
|
G/A |
rs116366286
|
+ |
CDS |
Nonsynonymous[Val706Met] |
2129
..
2129
|
G/A |
rs61749029
|
+ |
CDS |
Nonsynonymous[Arg710His] |
2156
..
2156
|
A/G |
rs201009079
|
+ |
CDS |
Nonsynonymous[Asn719Ser] |
2172
..
2172
|
C/T |
rs143362044
|
+ |
CDS |
Synonymous[Asn724Asn] |
2215
..
2215
|
G/A |
rs200541479
|
+ |
CDS |
Nonsynonymous[Gly739Ser] |
2231
..
2231
|
C/T |
rs202071188
|
+ |
CDS |
Nonsynonymous[Ser744Leu] |
2250
..
2250
|
G/A |
rs147534370
|
+ |
CDS |
Synonymous[Lys750Lys] |
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 |
|