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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000032906 Accession number: BC006536 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Symplekin;
 
 

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
27 .. 27 G/A rs115183531 - CDS Synonymous[Pro9Pro]
100 .. 100 T/G rs201588333 - CDS Nonsynonymous[Ser34Ala]
186 .. 186 C/T rs188023108 - CDS Synonymous[Ile62Ile]
264 .. 264 C/T rs2303014 + CDS Synonymous[Ile88Ile]
399 .. 399 C/A rs3206292 + CDS Synonymous[Val133Val]
498 .. 498 C/T/G rs113726151 - CDS
499 .. 499 G/A rs146146730 - CDS Nonsynonymous[Ala167Thr]
545 .. 545 T/C rs74684616 - CDS Nonsynonymous[Met182Thr]
569 .. 569 G/T rs181097745 - CDS Nonsynonymous[Arg190Leu]
599 .. 599 T/A rs190807637 - CDS Nonsynonymous[Ile200Asn]
615 .. 615 C/G rs142993063 - CDS Synonymous[Pro205Pro]
619 .. 619 A/G/C rs138430981 - CDS
625 .. 625 T/C rs202218775 - CDS Nonsynonymous[Tyr209His]
640 .. 640 G/C rs144772956 - CDS Nonsynonymous[Glu214Gln]
720 .. 720 G/T rs149485173 - CDS Synonymous[Ala240Ala]
737 .. 737 A/G rs199889309 - CDS Nonsynonymous[Asn246Ser]
741 .. 741 C/T rs137962662 - CDS Synonymous[Ile247Ile]
783 .. 783 C/A rs200895369 - CDS Synonymous[Ala261Ala]
813 .. 813 G/A rs150307195 - CDS Synonymous[Pro271Pro]
852 .. 852 T/C rs141119918 - CDS Synonymous[Asn284Asn]
882 .. 882 G/A rs114012990 - CDS Synonymous[Lys294Lys]
888 .. 888 G/A rs146119096 - CDS Synonymous[Pro296Pro]
916 .. 916 A/G rs142237458 - CDS Nonsynonymous[Thr306Ala]
951 .. 951 C/T rs200729092 - CDS Synonymous[Ala317Ala]
998 .. 998 C/T rs150989264 - CDS Nonsynonymous[Pro333Leu]
1011 .. 1011 G/A rs199931319 - CDS Synonymous[Ser337Ser]
1089 .. 1089 A/G/C rs17850110 - CDS
1091 .. 1091 C/T rs111641417 - CDS Nonsynonymous[Ser364Leu]
1092 .. 1092 G/A rs34044830 - CDS Synonymous[Ser364Ser]
1107 .. 1107 C/T rs145760743 - CDS Synonymous[Ala369Ala]
1113 .. 1113 G/A rs143619467 - CDS Synonymous[Ala371Ala]
1122 .. 1122 C/T rs140016441 - CDS Synonymous[Ser374Ser]
1155 .. 1155 C/T rs201282044 - CDS Synonymous[Phe385Phe]
1229 .. 1229 T/C rs112765364 - CDS Nonsynonymous[Met410Thr]
1292 .. 1292 A/C rs146050594 - CDS Nonsynonymous[Lys431Thr]
1410 .. 1410 C/T rs12460761 - CDS Synonymous[Ser470Ser]
1454 .. 1454 C/T rs186314633 - CDS Nonsynonymous[Ser485Leu]
1455 .. 1455 G/A rs181234868 - CDS Synonymous[Ser485Ser]
1473 .. 1473 C/T rs139386869 - CDS Synonymous[Ser491Ser]
1526 .. 1526 C/T rs150881076 - CDS Nonsynonymous[Pro509Leu]
1593 .. 1593 C/T rs35532874 - CDS Synonymous[Ser531Ser]
1644 .. 1644 C/T rs185128526 - CDS Synonymous[Gly548Gly]
1663 .. 1663 C/T rs148441077 - CDS Nonsynonymous[Arg555Trp]
1664 .. 1664 G/T/A rs138091080 - CDS
1690 .. 1690 G/A rs142715646 - CDS Nonsynonymous[Gly564Arg]
1717 .. 1717 C/T rs138674985 - CDS Synonymous[Leu573Leu]
1745 .. 1745 C/T rs145738629 - CDS Nonsynonymous[Ser582Leu]
1758 .. 1758 G/A rs143732577 - CDS Synonymous[Ala586Ala]
1796 .. 1796 G/A rs141706016 - CDS Nonsynonymous[Arg599His]
1827 .. 1827 G/A rs200536983 - CDS Synonymous[Gln609Gln]
1859 .. 1859 C/T rs146919889 - CDS Nonsynonymous[Ser620Leu]
1860 .. 1860 G/A rs150362520 - CDS Synonymous[Ser620Ser]
1894 .. 1894 C/T rs140275801 - CDS Nonsynonymous[Arg632Cys]
1911 .. 1911 G/C rs141129629 - CDS Synonymous[Leu637Leu]
1998 .. 1998 C/G rs62109798 - CDS Synonymous[Val666Val]
2025 .. 2025 C/T rs151283297 - CDS Synonymous[Arg675Arg]
2078 .. 2078 G/A rs145063068 - CDS Nonsynonymous[Arg693His]
2092 .. 2092 C/T rs35490979 - CDS Synonymous[Leu698Leu]
2101 .. 2101 C/G rs200674455 - CDS Nonsynonymous[Leu701Val]
2106 .. 2106 C/T rs189256616 - CDS Synonymous[Leu702Leu]
2152 .. 2152 C/T rs146548789 - CDS Synonymous[Leu718Leu]
2171 .. 2171 A/G rs200272773 - CDS Nonsynonymous[Tyr724Cys]
2250 .. 2250 G/A rs144181896 - CDS Synonymous[Pro750Pro]
2283 .. 2283 G/A rs144079083 - CDS Synonymous[Glu761Glu]
2403 .. 2403 C/T rs61733457 - CDS Synonymous[Ala801Ala]
2415 .. 2415 G/A rs201720265 - CDS Synonymous[Arg805Arg]
2418 .. 2418 G/A rs145863416 - CDS Synonymous[Thr806Thr]
2481 .. 2481 G/C rs201483741 - CDS Synonymous[Leu827Leu]
2523 .. 2523 G/A rs7251942 - CDS Synonymous[Thr841Thr]
2610 .. 2610 A/G rs200830151 - CDS Synonymous[Pro870Pro]
2763 .. 2763 G/A rs200684200 - CDS Synonymous[Leu921Leu]
2766 .. 2766 C/T rs139861984 - CDS Synonymous[Ser922Ser]
2769 .. 2769 G/A rs147289776 - CDS Synonymous[Pro923Pro]
2815 .. 2815 G/A rs199576296 - CDS Nonsynonymous[Val939Met]
2865 .. 2865 G/T rs142763385 - CDS Synonymous[Ala955Ala]
2920 .. 2920 G/T rs184236600 - CDS AA-STOP[Glu974*]
2922 .. 2922 G/T rs193031994 - CDS Nonsynonymous[Glu974Asp]
3017 .. 3017 G/A rs201053291 - CDS Nonsynonymous[Arg1006His]
3048 .. 3048 C/T rs140350780 - CDS Synonymous[Pro1016Pro]
3102 .. 3102 C/A rs147142432 - CDS Nonsynonymous[Phe1034Leu]
3184 .. 3184 C/T rs199742453 - CDS Nonsynonymous[His1062Tyr]
3240 .. 3240 C/T rs114897351 - CDS Synonymous[Thr1080Thr]
3333 .. 3333 C/G rs1132645 + CDS Synonymous[Ala1111Ala]
3353 .. 3353 C/T rs201106907 - CDS Nonsynonymous[Pro1118Leu]
3452 .. 3452 C/T rs188360728 - CDS Nonsynonymous[Pro1151Leu]
3467 .. 3467 C/T rs201374282 - CDS Nonsynonymous[Pro1156Leu]
3471 .. 3471 T/G rs185654690 - CDS Synonymous[Ser1157Ser]
3502 .. 3502 C/T rs148068166 - CDS Nonsynonymous[Pro1168Ser]
3503 .. 3503 C/T rs143595032 - CDS Nonsynonymous[Pro1168Leu]
3539 .. 3539 C/T rs112323529 - CDS Nonsynonymous[Pro1180Leu]
3578 .. 3578 A/T rs149315096 - CDS Nonsynonymous[Asp1193Val]
3615 .. 3615 T/C rs116247729 - CDS Synonymous[Ser1205Ser]
3650 .. 3650 C/T rs201620603 - CDS Nonsynonymous[Ala1217Val]
3678 .. 3678 G/A rs144730714 - CDS Synonymous[Arg1226Arg]
3681 .. 3681 C/T rs141304179 - CDS Synonymous[Ser1227Ser]
3693 .. 3693 C/T rs146574843 - CDS Synonymous[Leu1231Leu]
3700 .. 3700 G/C rs1804616 + CDS Nonsynonymous[Val1234Leu]
3731 .. 3731 C/A rs145662570 - CDS Nonsynonymous[Pro1244Gln]
3796 .. 3796 G/C rs3810332 + 3'UTR
3800 .. 3800 G/- rs34838090 - 3'UTR
3833 .. 3833 G/T rs4991330 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Mini-G

 Repeat  Repeat mask viewer
Type Start End Strand
MamRTE1 2447 2540 +
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer