Single Nucleotide Polymorphism (SNP) and indel
|
Location |
Variation |
dbSNP ID |
Strand |
CDS/UTR |
Translation |
21..21 |
T/C |
rs200931513 |
- |
CDS |
Synonymous[Leu3Leu] |
24..24 |
G/A |
rs200959542 |
- |
CDS |
Synonymous[Gly4Gly] |
47..47 |
G/C |
rs1318056 |
- |
CDS |
Nonsynonymous[Ser12Thr] |
79..79 |
T/A |
rs201683367 |
- |
CDS |
Nonsynonymous[Cys23Ser] |
82..82 |
C/A |
rs202125612 |
- |
CDS |
Nonsynonymous[Leu24Met] |
175..175 |
G/A |
rs140292380 |
- |
CDS |
Nonsynonymous[Gly55Ser] |
200..200 |
G/A |
rs55655202 |
- |
CDS |
Nonsynonymous[Arg63His] |
206..206 |
A/G |
rs140935116 |
- |
CDS |
Nonsynonymous[Tyr65Cys] |
259..259 |
A/G |
rs201376490 |
- |
CDS |
Nonsynonymous[Lys83Glu] |
273..273 |
C/T |
rs200064313 |
- |
CDS |
Synonymous[Leu87Leu] |
274..274 |
G/A |
rs187540054 |
- |
CDS |
Nonsynonymous[Gly88Arg] |
303..303 |
C/T |
rs200298102 |
- |
CDS |
Synonymous[Phe97Phe] |
304..304 |
G/A |
rs201168871 |
- |
CDS |
Nonsynonymous[Val98Ile] |
347..347 |
G/A |
rs147306941 |
- |
CDS |
Nonsynonymous[Ser112Asn] |
413..413 |
G/A |
rs148596386 |
- |
CDS |
Nonsynonymous[Arg134His] |
431..431 |
G/T |
rs61821670 |
- |
CDS |
Nonsynonymous[Gly140Val] |
476^477 |
-/A |
rs35945588 |
- |
CDS |
|
511..511 |
G/A |
rs149352120 |
- |
CDS |
Nonsynonymous[Ala167Thr] |
617..617 |
T/C |
rs112007604 |
- |
CDS |
Nonsynonymous[Val202Ala] |
618..618 |
A/G |
rs28914528 |
+ |
CDS |
Synonymous[Val202Val] |
843..843 |
C/T |
rs180770623 |
- |
CDS |
Synonymous[His277His] |
855..855 |
C/T |
rs201235188 |
- |
CDS |
Synonymous[Gly281Gly] |
876..876 |
C/T |
rs56032037 |
- |
CDS |
Synonymous[Tyr288Tyr] |
883..883 |
G/A |
rs200847097 |
- |
CDS |
Nonsynonymous[Val291Ile] |
906..906 |
A/G |
rs28914532 |
+ |
CDS |
Synonymous[Thr298Thr] |
922..922 |
T/C |
rs28914533 |
+ |
CDS |
Synonymous[Leu304Leu] |
980..980 |
A/G |
rs192943572 |
- |
CDS |
Nonsynonymous[Glu323Gly] |
999..999 |
G/A |
rs143159520 |
- |
CDS |
Synonymous[Leu329Leu] |
1037..1037 |
T/G |
rs147552979 |
- |
CDS |
Nonsynonymous[Phe342Cys] |
1050..1050 |
T/G |
rs150181582 |
- |
CDS |
Synonymous[Thr346Thr] |
1053..1053 |
A/G |
rs139334603 |
- |
CDS |
Synonymous[Glu347Glu] |
1073..1073 |
T/A |
rs141559171 |
- |
CDS |
AA-STOP[Leu354*] |
1107..1107 |
G/A |
rs199688019 |
- |
CDS |
Synonymous[Glu365Glu] |
1137..1137 |
C/T |
rs201521779 |
- |
CDS |
Synonymous[Ala375Ala] |
1264..1264 |
T/C |
rs140036159 |
- |
CDS |
Synonymous[Leu418Leu] |
1284..1284 |
T/C |
rs142746259 |
- |
CDS |
Synonymous[Tyr424Tyr] |
1369..1369 |
G/A |
rs144729350 |
- |
CDS |
Nonsynonymous[Val453Ile] |
1431..1431 |
T/C |
rs138565389 |
- |
CDS |
Synonymous[Gly473Gly] |
1461..1461 |
A/C |
rs2274230 |
+ |
CDS |
Synonymous[Leu483Leu] |
1598..1598 |
A/G |
rs146942033 |
- |
CDS |
Nonsynonymous[His529Arg] |
1644..1644 |
C/T |
rs151170340 |
- |
CDS |
Synonymous[Ala544Ala] |
1787..1787 |
C/T |
rs185583542 |
- |
CDS |
Nonsynonymous[Ala592Val] |
1789..1789 |
C/T |
rs148985886 |
- |
CDS |
Nonsynonymous[Pro593Ser] |
1893..1893 |
A/G |
rs144233543 |
- |
CDS |
Synonymous[Thr627Thr] |
1928..1928 |
G/C |
rs199575608 |
- |
CDS |
Nonsynonymous[Ser639Thr] |
1957..1957 |
A/G |
rs141450341 |
- |
CDS |
Nonsynonymous[Thr649Ala] |
1960..1960 |
C/A |
rs144066805 |
- |
CDS |
Nonsynonymous[Pro650Thr] |
1965..1965 |
C/T |
rs138240636 |
- |
CDS |
Synonymous[Pro651Pro] |
2016..2016 |
C/T |
rs146997813 |
- |
CDS |
Synonymous[Tyr668Tyr] |
2024..2024 |
C/T |
rs200298510 |
- |
CDS |
Nonsynonymous[Thr671Met] |
2025..2025 |
G/T |
rs28913887 |
+ |
CDS |
Synonymous[Thr671Thr] |
2054..2054 |
A/G |
rs150953979 |
- |
CDS |
Nonsynonymous[Gln681Arg] |
2084..2084 |
C/A |
rs143839622 |
- |
CDS |
Nonsynonymous[Ala691Asp] |
2126^2127 |
-/G |
rs67764190 |
- |
CDS |
|
2157..2157 |
C/T |
rs28913888 |
+ |
CDS |
Synonymous[Asp715Asp] |
2160..2160 |
C/T |
rs144460998 |
- |
CDS |
Synonymous[Asp716Asp] |
2161..2161 |
G/A |
rs148512062 |
- |
CDS |
Nonsynonymous[Gly717Ser] |
2169..2169 |
G/T |
rs139820193 |
- |
CDS |
Synonymous[Gly719Gly] |
2203..2203 |
T/G |
rs78418476 |
- |
CDS |
Nonsynonymous[Ser731Ala] |
2205..2205 |
T/C |
rs147272038 |
- |
CDS |
Synonymous[Ser731Ser] |
2231..2231 |
G/A |
rs147435995 |
- |
CDS |
Nonsynonymous[Arg740His] |
2241..2241 |
A/G |
rs202245355 |
- |
CDS |
Synonymous[Lys743Lys] |
2248..2248 |
C/T |
rs140267087 |
- |
CDS |
Synonymous[Leu746Leu] |
2317..2317 |
A/T |
rs55892721 |
- |
CDS |
Nonsynonymous[Thr769Ser] |
2474..2474 |
A/T |
rs146696301 |
- |
CDS |
Nonsynonymous[Lys821Ile] |
2481..2481 |
G/A |
rs138005479 |
- |
CDS |
Synonymous[Glu823Glu] |
2592..2592 |
C/T |
rs61731092 |
- |
CDS |
Synonymous[Asp860Asp] |
2633..2633 |
A/- |
rs34839060 |
- |
CDS |
|
2680..2680 |
C/A |
rs201832781 |
- |
CDS |
Nonsynonymous[Pro890Thr] |
2689..2689 |
G/A |
rs145907038 |
- |
CDS |
Nonsynonymous[Gly893Arg] |
2701..2701 |
G/T |
rs140629135 |
- |
CDS |
Nonsynonymous[Gly897Cys] |
2743..2743 |
A/T |
rs202035355 |
- |
CDS |
Nonsynonymous[Thr911Ser] |
2756..2756 |
A/G |
rs17277288 |
- |
CDS |
Nonsynonymous[Lys915Arg] |
2783..2783 |
T/G |
rs201190336 |
- |
CDS |
Nonsynonymous[Leu924Arg] |
2803..2803 |
G/A |
rs28913889 |
+ |
CDS |
Nonsynonymous[Val931Met] |
2811..2811 |
C/T |
rs35124879 |
- |
CDS |
Synonymous[Leu933Leu] |
2816..2816 |
G/T |
rs181288208 |
- |
CDS |
Nonsynonymous[Gly935Val] |
2851..2851 |
T/C |
rs150587634 |
- |
CDS |
Nonsynonymous[Ser947Pro] |
2897..2897 |
G/A |
rs137859710 |
- |
CDS |
Nonsynonymous[Arg962Gln] |
2954..2954 |
C/G |
rs28913890 |
+ |
CDS |
Nonsynonymous[Pro981Arg] |
2955..2955 |
G/C |
rs150940806 |
- |
CDS |
Synonymous[Pro981Pro] |
2982..2982 |
G/A |
rs145868471 |
- |
CDS |
Synonymous[Glu990Glu] |
2986..2986 |
A/G |
rs140945067 |
- |
CDS |
Nonsynonymous[Thr992Ala] |
3032..3032 |
G/A |
rs201697670 |
- |
CDS |
Nonsynonymous[Gly1007Glu] |
3056..3056 |
T/C |
rs140016842 |
- |
CDS |
Nonsynonymous[Val1015Ala] |
3123..3123 |
C/A |
rs147901436 |
- |
CDS |
Synonymous[Ser1037Ser] |
3129..3129 |
G/T/A |
rs148651616 |
- |
CDS |
|
3146..3146 |
A/G |
rs189362240 |
- |
CDS |
Nonsynonymous[Asn1045Ser] |
3152..3152 |
C/T |
rs202244816 |
- |
CDS |
Nonsynonymous[Thr1047Ile] |
3221..3221 |
G/A |
rs28913891 |
+ |
CDS |
Nonsynonymous[Ser1070Asn] |
3250..3250 |
C/A |
rs149947908 |
- |
CDS |
Nonsynonymous[Leu1080Ile] |
3256..3256 |
T/A |
rs146190825 |
- |
CDS |
Nonsynonymous[Ser1082Thr] |
3258..3258 |
C/T |
rs184267733 |
- |
CDS |
Synonymous[Ser1082Ser] |
3260..3260 |
G/A |
rs142446654 |
- |
CDS |
Nonsynonymous[Ser1083Asn] |
3268..3268 |
A/G |
rs28913892 |
+ |
CDS |
Nonsynonymous[Thr1086Ala] |
3345..3345 |
C/T |
rs201035509 |
- |
CDS |
Synonymous[Cys1111Cys] |
3399..3399 |
A/G |
rs148342392 |
- |
CDS |
Synonymous[Glu1129Glu] |
3425..3425 |
C/T |
rs143405311 |
- |
CDS |
Nonsynonymous[Ser1138Phe] |
3451..3451 |
A/G |
rs138532009 |
- |
CDS |
Nonsynonymous[Thr1147Ala] |
3457..3457 |
C/G |
rs199707055 |
- |
CDS |
Nonsynonymous[Pro1149Ala] |
3471..3471 |
C/T |
rs141543536 |
- |
CDS |
Synonymous[Asn1153Asn] |