Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
45..45 |
G/A |
rs200600700 |
- |
CDS |
Synonymous[Leu15Leu] |
54..54 |
C/T |
rs185771662 |
- |
CDS |
Synonymous[Pro18Pro] |
69..69 |
G/A |
rs139047710 |
- |
CDS |
Synonymous[Gly23Gly] |
72..72 |
G/T |
rs146651448 |
- |
CDS |
Nonsynonymous[Gln24His] |
90..90 |
A/G |
rs11804613 |
- |
CDS |
Synonymous[Thr30Thr] |
128..128 |
A/G |
rs201862186 |
- |
CDS |
Nonsynonymous[Asn43Ser] |
139..139 |
T/C |
rs144296174 |
- |
CDS |
Synonymous[Leu47Leu] |
258..258 |
A/G |
rs11548283 |
+ |
CDS |
Synonymous[Gly86Gly] |
308^309 |
-/T |
rs66970709 |
- |
CDS |
|
390..390 |
G/T |
rs138147922 |
- |
CDS |
Synonymous[Val130Val] |
400..400 |
A/G |
rs147024844 |
- |
CDS |
Nonsynonymous[Asn134Asp] |
415..415 |
A/G |
rs146827361 |
- |
CDS |
Nonsynonymous[Thr139Ala] |
430^431 |
-/T |
rs66481220 |
- |
CDS |
|
479..479 |
G/A |
rs201422232 |
- |
CDS |
Nonsynonymous[Gly160Glu] |
536..536 |
G/A |
rs201287522 |
- |
CDS |
Nonsynonymous[Arg179Lys] |
540^541 |
-/T |
rs67564598 |
- |
CDS |
|
546..546 |
G/A |
rs151080605 |
- |
CDS |
Synonymous[Leu182Leu] |
585..585 |
A/G |
rs201936989 |
- |
CDS |
Synonymous[Leu195Leu] |
632..632 |
T/G |
rs148839966 |
- |
CDS |
Nonsynonymous[Met211Arg] |
645^646 |
-/T |
rs35643738 |
- |
CDS |
|
692..692 |
C/T |
rs34614709 |
- |
CDS |
Nonsynonymous[Thr231Met] |
831..831 |
C/T |
rs139987030 |
- |
CDS |
Synonymous[Tyr277Tyr] |
870..870 |
A/G |
rs56311356 |
- |
CDS |
Synonymous[Thr290Thr] |
873..873 |
C/T |
rs141895289 |
- |
CDS |
Synonymous[Tyr291Tyr] |
1006..1006 |
G/A |
rs200168774 |
- |
CDS |
Nonsynonymous[Asp336Asn] |
1016^1017 |
-/A |
rs67972781 |
- |
CDS |
|
1100..1100 |
A/G |
rs111893322 |
- |
CDS |
Nonsynonymous[Asp367Gly] |
1138..1138 |
A/T |
rs147469048 |
- |
CDS |
Nonsynonymous[Asn380Tyr] |
1165..1165 |
C/T |
rs201384556 |
- |
CDS |
Nonsynonymous[His389Tyr] |
1243..1243 |
T/C |
rs201022380 |
- |
CDS |
Nonsynonymous[Cys415Arg] |
1263..1263 |
T/G |
rs201645647 |
- |
CDS |
Synonymous[Gly421Gly] |
1269..1269 |
C/T |
rs201820010 |
- |
CDS |
Synonymous[Thr423Thr] |
1507..1507 |
G/A |
rs139384904 |
- |
CDS |
Nonsynonymous[Val503Ile] |
1573..1573 |
G/A |
rs200713147 |
- |
CDS |
Nonsynonymous[Asp525Asn] |
1581..1581 |
T/- |
rs66665503 |
- |
CDS |
|
1587..1587 |
A/G |
rs149633059 |
- |
CDS |
Synonymous[Gln529Gln] |
1594..1594 |
G/A |
rs201130103 |
- |
CDS |
Nonsynonymous[Ala532Thr] |
1610..1610 |
T/C |
rs56364976 |
- |
CDS |
Nonsynonymous[Ile537Thr] |
1741..1741 |
G/A |
rs199746122 |
- |
CDS |
Nonsynonymous[Glu581Lys] |
1782..1782 |
A/G |
rs200326381 |
- |
CDS |
Synonymous[Pro594Pro] |
1795..1795 |
A/G |
rs140818561 |
- |
CDS |
Nonsynonymous[Ile599Val] |
1823..1823 |
T/C |
rs201126700 |
- |
CDS |
Nonsynonymous[Leu608Pro] |
1845^1846 |
-/A |
rs67804260 |
- |
CDS |
|
1849..1849 |
A/G |
rs142697103 |
- |
CDS |
Nonsynonymous[Ile617Val] |
1856..1856 |
A/T |
rs201979872 |
- |
CDS |
Nonsynonymous[Tyr619Phe] |
1973..1973 |
T/- |
rs67734085 |
- |
CDS |
|
1978..1978 |
G/A |
rs3939280 |
- |
CDS |
Nonsynonymous[Asp660Asn] |
1988..1988 |
A/G |
rs200068494 |
- |
CDS |
Nonsynonymous[Glu663Gly] |
2005..2005 |
A/G |
rs145584750 |
- |
CDS |
Nonsynonymous[Ser669Gly] |
2096..2096 |
C/T |
rs56119119 |
- |
CDS |
Nonsynonymous[Thr699Met] |
2120^2121 |
-/G |
rs66555523 |
- |
CDS |
|
2126..2126 |
A/G |
rs34943764 |
- |
CDS |
Nonsynonymous[Tyr709Cys] |
2230..2230 |
A/C |
rs77122651 |
- |
CDS |
Nonsynonymous[Ile744Leu] |
2265..2265 |
G/T |
rs142030346 |
- |
CDS |
Synonymous[Gly755Gly] |
2373..2373 |
G/A |
rs200154961 |
- |
CDS |
Synonymous[Ala791Ala] |
2408..2408 |
C/T |
rs144801895 |
- |
CDS |
Nonsynonymous[Ser803Leu] |
2409..2409 |
G/A |
rs35017425 |
- |
CDS |
Synonymous[Ser803Ser] |
2445..2445 |
C/T |
rs137890180 |
- |
CDS |
Synonymous[Ile815Ile] |
2455..2455 |
T/C |
rs200668164 |
- |
CDS |
Synonymous[Leu819Leu] |
2491..2491 |
T/A |
rs199653014 |
- |
CDS |
Nonsynonymous[Cys831Ser] |
2513..2513 |
A/C |
rs200440295 |
- |
CDS |
Nonsynonymous[Lys838Thr] |
2529..2529 |
A/G |
rs199733498 |
- |
CDS |
Synonymous[Leu843Leu] |
2541..2541 |
C/T |
rs55845581 |
- |
CDS |
Synonymous[Ile847Ile] |
2669..2669 |
A/G |
rs150700769 |
- |
CDS |
Nonsynonymous[Asp890Gly] |
2723..2723 |
G/C |
rs199543596 |
- |
CDS |
Nonsynonymous[Gly908Ala] |
2747..2747 |
G/A |
rs140416725 |
- |
CDS |
Nonsynonymous[Arg916His] |
2754..2754 |
T/C |
rs113402500 |
- |
CDS |
Synonymous[Thr918Thr] |
2780..2780 |
C/T |
rs202057695 |
- |
CDS |
Nonsynonymous[Thr927Ile] |
2836..2836 |
G/A |
rs112933697 |
- |
CDS |
Nonsynonymous[Gly946Ser] |
2887..2887 |
A/G |
rs142183701 |
- |
CDS |
Nonsynonymous[Lys963Glu] |
2918^2919 |
-/A |
rs35357574 |
- |
CDS |
|
2952..2952 |
G/A |
rs35369012 |
- |
CDS |
Synonymous[Gln984Gln] |
2960..2960 |
T/C |
rs200344808 |
- |
CDS |
Nonsynonymous[Ile987Thr] |
3156..3156 |
C/T |
rs201643732 |
- |
CDS |
Synonymous[Val1052Val] |
3160..3160 |
G/A |
rs56219089 |
- |
CDS |
Nonsynonymous[Ala1054Thr] |
3198..3198 |
C/T |
rs149978094 |
- |
CDS |
Synonymous[Pro1066Pro] |
3222..3222 |
C/T |
rs200331694 |
- |
CDS |
Synonymous[Ser1074Ser] |
3326..3326 |
T/- |
rs67003899 |
- |
CDS |
|
3343..3343 |
A/G |
rs181637825 |
- |
CDS |
Nonsynonymous[Arg1115Gly] |
3350..3350 |
G/A |
rs961490 |
- |
CDS |
Nonsynonymous[Arg1117His] |
3512..3512 |
A/G |
rs201692012 |
- |
CDS |
Nonsynonymous[Asn1171Ser] |
3544..3544 |
A/T |
rs200594653 |
- |
CDS |
Nonsynonymous[Asn1182Tyr] |
3615..3615 |
T/C |
rs180784576 |
- |
CDS |
Synonymous[Asp1205Asp] |
3627..3627 |
C/T |
rs189930745 |
- |
CDS |
Synonymous[Thr1209Thr] |
3667..3667 |
G/A/C/T |
rs1929860 |
+ |
CDS |
|
3686..3686 |
G/A |
rs200056759 |
- |
CDS |
Nonsynonymous[Arg1229His] |
3727..3727 |
C/G |
rs201775243 |
- |
CDS |
Nonsynonymous[Gln1243Glu] |
3764..3764 |
G/A |
rs200051797 |
- |
CDS |
Nonsynonymous[Arg1255His] |
3780..3780 |
A/G |
rs1929861 |
+ |
CDS |
Synonymous[Lys1260Lys] |
3789..3789 |
A/G |
rs200690739 |
- |
CDS |
Synonymous[Gln1263Gln] |
3793..3793 |
C/A |
rs149240330 |
- |
CDS |
Nonsynonymous[Pro1265Thr] |
3817..3817 |
A/G |
rs146203858 |
- |
CDS |
Nonsynonymous[Ile1273Val] |
3887..3887 |
A/- |
rs66656566 |
- |
CDS |
|
3895..3895 |
A/G |
rs200486377 |
- |
CDS |
Nonsynonymous[Ser1299Gly] |
3961..3961 |
G/A |
rs183857756 |
- |
CDS |
Nonsynonymous[Ala1321Thr] |
3963..3963 |
A/G |
rs199656326 |
- |
CDS |
Synonymous[Ala1321Ala] |
4066..4066 |
G/T |
rs147617327 |
- |
CDS |
Nonsynonymous[Ala1356Ser] |
4079..4079 |
C/G |
rs142464333 |
- |
CDS |
Nonsynonymous[Ser1360Cys] |
4107..4107 |
G/A |
rs142853761 |
- |
CDS |
Synonymous[Ser1369Ser] |
4124..4124 |
C/T |
rs55687355 |
- |
CDS |
Nonsynonymous[Ala1375Val] |
4147..4147 |
T/C |
rs112426338 |
- |
CDS |
Nonsynonymous[Ser1383Pro] |
4199..4199 |
A/G |
rs146136586 |
- |
CDS |
Nonsynonymous[Asn1400Ser] |
4253..4253 |
A/T |
rs56229267 |
- |
CDS |
Nonsynonymous[Lys1418Ile] |
4256..4256 |
A/G |
rs139110633 |
- |
CDS |
Nonsynonymous[Asn1419Ser] |
4346..4346 |
G/A |
rs201852267 |
- |
CDS |
Nonsynonymous[Arg1449His] |
4399..4399 |
C/T |
rs12561938 |
- |
CDS |
Synonymous[Leu1467Leu] |
4465..4465 |
A/G |
rs200918078 |
- |
CDS |
Nonsynonymous[Met1489Val] |
4494..4494 |
G/C |
rs55848092 |
- |
CDS |
Synonymous[Leu1498Leu] |
4497..4497 |
A/G |
rs141188296 |
- |
CDS |
Synonymous[Lys1499Lys] |
4563..4563 |
A/G |
rs145724581 |
- |
CDS |
Synonymous[Pro1521Pro] |
4567..4567 |
A/G |
rs199675358 |
- |
CDS |
Nonsynonymous[Ile1523Val] |
4570..4570 |
A/G |
rs2297417 |
+ |
CDS |
Nonsynonymous[Thr1524Ala] |
4579..4579 |
C/T |
rs148881297 |
- |
CDS |
Nonsynonymous[Arg1527Cys] |
4608..4608 |
T/C |
rs150430697 |
- |
CDS |
Synonymous[Ala1536Ala] |
4635..4635 |
C/T |
rs16846779 |
- |
CDS |
Synonymous[Ser1545Ser] |
4650..4650 |
C/T |
rs147810081 |
- |
CDS |
Synonymous[Ser1550Ser] |
4702..4702 |
A/G |
rs145538584 |
- |
CDS |
Nonsynonymous[Met1568Val] |
4727..4727 |
T/C |
rs200692909 |
- |
CDS |
Nonsynonymous[Leu1576Ser] |
4734..4734 |
C/T |
rs1045247 |
+ |
CDS |
Synonymous[Ser1578Ser] |
4767..4767 |
G/A |
rs201963139 |
- |
CDS |
Synonymous[Ala1589Ala] |
4780..4780 |
G/A |
rs143404397 |
- |
CDS |
Nonsynonymous[Gly1594Arg] |
4797..4797 |
T/C |
rs147437313 |
- |
CDS |
Synonymous[Ser1599Ser] |
4799..4799 |
C/T |
rs148249654 |
- |
CDS |
Nonsynonymous[Pro1600Leu] |
4843^4844 |
-/C |
rs67581567 |
- |
CDS |
|
4853..4853 |
T/C |
rs2802269 |
- |
CDS |
Nonsynonymous[Val1618Ala] |
4862..4862 |
G/A |
rs145018031 |
- |
CDS |
Nonsynonymous[Arg1621Gln] |
4874..4874 |
G/T |
rs146538430 |
- |
CDS |
Nonsynonymous[Ser1625Ile] |
4882..4882 |
C/T |
rs140582350 |
- |
CDS |
Synonymous[Leu1628Leu] |
4904..4904 |
G/A |
rs142402392 |
- |
CDS |
Nonsynonymous[Ser1635Asn] |
4914..4914 |
G/A |
rs56027641 |
- |
CDS |
Synonymous[Pro1638Pro] |