Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
10
..
10
|
A/- |
rs8187867
|
+ |
5'UTR |
|
42
..
42
|
C/T |
rs144704960
|
- |
CDS |
Nonsynonymous[Thr6Met] |
55
..
55
|
T/C |
rs149765893
|
- |
CDS |
Synonymous[Pro10Pro] |
68
..
68
|
G/T |
rs11554424
|
+ |
CDS |
Nonsynonymous[Asp15Tyr] |
69
..
69
|
A/G |
rs146880290
|
- |
CDS |
Nonsynonymous[Asp15Gly] |
107
..
107
|
G/A |
rs139444933
|
- |
CDS |
Nonsynonymous[Glu28Lys] |
113
..
113
|
C/A |
rs146262229
|
- |
CDS |
Nonsynonymous[His30Asn] |
130
..
130
|
C/A |
rs150630972
|
- |
CDS |
Synonymous[Gly35Gly] |
142
..
142
|
T/C |
rs11554422
|
+ |
CDS |
Synonymous[Pro39Pro] |
144
..
144
|
T/C |
rs11554426
|
+ |
CDS |
Nonsynonymous[Val40Ala] |
250
..
250
|
C/T |
rs13959
|
+ |
CDS |
Synonymous[Ser75Ser] |
252
..
252
|
C/G |
rs150537821
|
- |
CDS |
Nonsynonymous[Pro76Arg] |
260
..
260
|
A/G |
rs201862815
|
- |
CDS |
Nonsynonymous[Thr79Ala] |
280
..
280
|
G/C |
rs202024021
|
- |
CDS |
Nonsynonymous[Arg85Ser] |
298
..
298
|
G/A |
rs141702925
|
- |
CDS |
Synonymous[Lys91Lys] |
337
..
337
|
G/A |
rs200911247
|
- |
CDS |
Synonymous[Ala104Ala] |
347
..
347
|
T/A |
rs201385375
|
- |
CDS |
Nonsynonymous[Ser108Thr] |
372
..
372
|
C/T |
rs200465513
|
- |
CDS |
Nonsynonymous[Ser116Phe] |
376
..
376
|
T/C |
rs148006185
|
- |
CDS |
Synonymous[Asn117Asn] |
387
..
387
|
A/G |
rs1049981
|
+ |
CDS |
Nonsynonymous[Asn121Ser] |
398
..
398
|
G/C |
rs11554423
|
+ |
CDS |
Nonsynonymous[Gly125Arg] |
412
..
412
|
A/G |
rs200315162
|
- |
CDS |
Synonymous[Thr129Thr] |
414
..
414
|
T/C |
rs192879914
|
- |
CDS |
Nonsynonymous[Leu130Ser] |
417
..
417
|
G/A |
rs188688581
|
- |
CDS |
Nonsynonymous[Arg131His] |
452
..
452
|
C/T |
rs143464638
|
- |
CDS |
Nonsynonymous[Arg143Cys] |
453
..
453
|
G/A |
rs149236405
|
- |
CDS |
Nonsynonymous[Arg143His] |
481
..
481
|
T/A |
rs139374917
|
- |
CDS |
Nonsynonymous[Phe152Leu] |
554
..
554
|
A/T |
rs8187929
|
+ |
CDS |
Nonsynonymous[Ile177Phe] |
565
..
565
|
A/G |
rs200452607
|
- |
CDS |
Nonsynonymous[Ile180Met] |
574
..
574
|
A/C |
rs146885014
|
- |
CDS |
Synonymous[Ala183Ala] |
594
..
594
|
T/C |
rs142547395
|
- |
CDS |
Nonsynonymous[Val190Ala] |
595
..
595
|
G/T |
rs147729972
|
- |
CDS |
Synonymous[Val190Val] |
669
..
669
|
C/T |
rs142480764
|
- |
CDS |
Nonsynonymous[Pro215Leu] |
686
..
686
|
A/G |
rs199833382
|
- |
CDS |
Nonsynonymous[Ile221Val] |
769
..
769
|
A/T |
rs11554425
|
+ |
CDS |
Synonymous[Thr248Thr] |
866
..
866
|
G/A |
rs201404630
|
- |
CDS |
Nonsynonymous[Asp281Asn] |
886
..
886
|
T/C |
rs199745432
|
- |
CDS |
Synonymous[Ala287Ala] |
904
..
904
|
T/C |
rs150455539
|
- |
CDS |
Synonymous[His293His] |
934
..
934
|
T/C |
rs140513949
|
- |
CDS |
Synonymous[Cys303Cys] |
962
..
962
|
G/A |
rs151269980
|
- |
CDS |
Nonsynonymous[Glu313Lys] |
1008
..
1008
|
A/C |
rs186527997
|
- |
CDS |
Nonsynonymous[Lys328Thr] |
1147
..
1147
|
G/A |
rs202153674
|
- |
CDS |
Synonymous[Pro374Pro] |
1161
..
1161
|
G/C |
rs142280224
|
- |
CDS |
Nonsynonymous[Gly379Ala] |
1202
..
1202
|
G/A |
rs190750432
|
- |
CDS |
Nonsynonymous[Glu393Lys] |
1204
..
1204
|
G/C |
rs200416331
|
- |
CDS |
Nonsynonymous[Glu393Asp] |
1237
..
1237
|
A/G |
rs61995942
|
- |
CDS |
Synonymous[Pro404Pro] |
1254
^
1255
|
-/G |
rs5898283
|
- |
CDS |
|
1335
..
1335
|
T/C |
rs200885470
|
- |
CDS |
Nonsynonymous[Ile437Thr] |
1361
..
1361
|
G/A |
rs146756445
|
- |
CDS |
Nonsynonymous[Ala446Thr] |
1362
..
1362
|
C/A |
rs1803054
|
+ |
CDS |
Nonsynonymous[Ala446Asp] |
1379
..
1379
|
G/C |
rs185575721
|
- |
CDS |
Nonsynonymous[Val452Leu] |
1400
..
1400
|
G/A |
rs143437440
|
- |
CDS |
Nonsynonymous[Val459Met] |
1422
..
1422
|
T/A |
rs1063447
|
+ |
CDS |
Nonsynonymous[Phe466Tyr] |
1489
..
1489
|
G/A |
rs139965768
|
- |
CDS |
Synonymous[Glu488Glu] |
1530
..
1530
|
A/G |
rs144085228
|
- |
CDS |
Synonymous_atSTOP[*502*] |
1593
..
1593
|
A/G |
rs8187998
|
+ |
3'UTR |
|
1603
..
1603
|
T/C |
rs186712273
|
- |
3'UTR |
|
1616
..
1616
|
T/G |
rs115294789
|
- |
3'UTR |
|
1735
^
1736
|
-/C |
rs34476430
|
- |
3'UTR |
|
1771
..
1771
|
T/A |
rs77252691
|
+ |
3'UTR |
|
1846
..
1846
|
G/C |
rs8187999
|
+ |
3'UTR |
|
1872
..
1872
|
T/C |
rs15500
|
+ |
3'UTR |
|
1986
..
1986
|
A/G |
rs8188000
|
+ |
3'UTR |
|
1991
..
1991
|
T/C |
rs148290597
|
- |
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 |
|