Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
18
..
18
|
A/G |
rs147371889
|
- |
CDS |
Nonsynonymous[Met1Val] |
29
..
29
|
A/G |
rs142755934
|
- |
CDS |
Synonymous[Pro4Pro] |
54
..
54
|
G/T |
rs140439476
|
- |
CDS |
Nonsynonymous[Asp13Tyr] |
71
..
71
|
A/G |
rs147138921
|
- |
CDS |
Synonymous[Ala18Ala] |
72
..
72
|
G/A |
rs149464525
|
- |
CDS |
Nonsynonymous[Ala19Thr] |
150
..
150
|
C/G |
rs181695170
|
- |
CDS |
Nonsynonymous[Leu45Val] |
151
..
151
|
T/C |
rs77597251
|
- |
CDS |
Nonsynonymous[Leu45Pro] |
153
..
153
|
G/A |
rs189018671
|
- |
CDS |
Nonsynonymous[Val46Met] |
191
..
191
|
C/T |
rs199833547
|
- |
CDS |
Synonymous[Tyr58Tyr] |
204
..
204
|
C/A |
rs9300380
|
- |
CDS |
Synonymous[Arg63Arg] |
281
..
281
|
C/T |
rs201944413
|
- |
CDS |
Synonymous[Phe88Phe] |
337
..
337
|
A/T |
rs150274872
|
- |
CDS |
Nonsynonymous[Lys107Met] |
384
..
384
|
T/G |
rs141931194
|
- |
CDS |
Nonsynonymous[Phe123Val] |
408
..
408
|
C/T |
rs138415306
|
- |
CDS |
Nonsynonymous[Arg131Cys] |
409
..
409
|
G/A |
rs145670146
|
- |
CDS |
Nonsynonymous[Arg131His] |
481
..
481
|
C/T |
rs140605584
|
- |
CDS |
Nonsynonymous[Ala155Val] |
555
..
555
|
A/G |
rs200424554
|
- |
CDS |
Nonsynonymous[Arg180Gly] |
613
..
613
|
A/G |
rs146831407
|
- |
CDS |
Nonsynonymous[Asn199Ser] |
617
..
617
|
A/G |
rs9284174
|
- |
CDS |
Synonymous[Leu200Leu] |
630
..
630
|
A/G |
rs149147994
|
- |
CDS |
Nonsynonymous[Thr205Ala] |
686
..
686
|
C/T |
rs145058258
|
- |
CDS |
Synonymous[His223His] |
698
..
698
|
T/C |
rs149963863
|
- |
CDS |
Synonymous[His227His] |
713
..
713
|
C/T |
rs139618344
|
- |
CDS |
Synonymous[Asp232Asp] |
738
..
738
|
A/C |
rs200374851
|
- |
CDS |
Synonymous[Arg241Arg] |
739
..
739
|
G/A |
rs147820981
|
- |
CDS |
Nonsynonymous[Arg241Lys] |
759
^
760
|
-/C |
rs34496997
|
- |
CDS |
|
771
..
771
|
G/A |
rs144457939
|
- |
CDS |
Nonsynonymous[Val252Ile] |
804
..
804
|
A/T |
rs140375156
|
- |
CDS |
Nonsynonymous[Ile263Phe] |
813
..
813
|
G/A |
rs150544471
|
- |
CDS |
Nonsynonymous[Glu266Lys] |
820
..
820
|
G/A |
rs199724003
|
- |
CDS |
Nonsynonymous[Arg268His] |
848
..
848
|
G/T |
rs77191607
|
- |
CDS |
Nonsynonymous[Glu277Asp] |
868
..
868
|
A/G |
rs141610533
|
- |
CDS |
Nonsynonymous[Tyr284Cys] |
909
..
909
|
A/G |
rs148832052
|
- |
CDS |
Nonsynonymous[Asn298Asp] |
910
..
910
|
A/G |
rs185085235
|
- |
CDS |
Nonsynonymous[Asn298Ser] |
950
..
950
|
G/T |
rs148408262
|
- |
CDS |
Nonsynonymous[Gln311His] |
983
..
983
|
C/T |
rs144365402
|
- |
CDS |
Synonymous[Ser322Ser] |
990
..
990
|
C/T |
rs143070279
|
- |
CDS |
Nonsynonymous[Leu325Phe] |
1010
..
1010
|
C/T |
rs9584456
|
- |
CDS |
Synonymous[Ile331Ile] |
1027
^
1028
|
-/C |
rs34335064
|
- |
CDS |
|
1031
..
1031
|
A/T |
rs145793060
|
- |
CDS |
STOP-AA[*338Cys] |
1069
..
1069
|
G/A |
rs145452744
|
- |
3'UTR |
|
1073
..
1073
|
C/A |
rs189186212
|
- |
3'UTR |
|
1130
..
1130
|
T/C |
rs117409629
|
- |
3'UTR |
|
1220
..
1220
|
A/G |
rs184285545
|
- |
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 |
|