H-InvDB x AHG DB
Transcript view
H-InvDB_9.0 released on May 27, 2015.
Search by for Advanced Search
Home Quick guide Navi BLAST Site map Download Contact us Help
H-Invitational ID: HIT000032262 Accession number: BC005171 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Chaperone activity of bc1 complex-like, mitochondrial; Chaperone-ABC1-like; EC=2.7.11.-; aarF domain-containing protein kinase 3; Precursor;
 
 

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
122 .. 122 A/G rs199604256 + CDS Nonsynonymous[Met1Val]
132 .. 132 T/A rs202075418 + CDS Nonsynonymous[Ile4Lys]
156 .. 156 C/T rs200052870 + CDS Nonsynonymous[Ala12Val]
171 .. 171 A/G rs150221608 + CDS Nonsynonymous[Lys17Arg]
183 .. 183 C/T rs142184584 + CDS Nonsynonymous[Ala21Val]
184 .. 184 G/A rs11549709 + CDS Synonymous[Ala21Ala]
188 .. 188 G/A rs35582308 + CDS Nonsynonymous[Val23Met]
199 .. 199 C/T rs150541057 + CDS Synonymous[His26His]
217 .. 217 C/T rs199919057 + CDS Synonymous[Ile32Ile]
221 .. 221 G/A rs142125927 + CDS Nonsynonymous[Gly34Arg]
238 .. 238 G/A rs11549708 + CDS Synonymous[Ala39Ala]
258 .. 258 C/T rs187123516 + CDS Nonsynonymous[Thr46Met]
292 .. 292 G/C rs200123840 + CDS Nonsynonymous[Lys57Asn]
352 .. 352 G/A rs201037948 + CDS Synonymous[Gly77Gly]
359 .. 359 C/T rs76249490 + CDS Nonsynonymous[His80Tyr]
361 .. 361 C/T rs113667144 + CDS Synonymous[His80His]
362 .. 362 T/C rs200349511 + CDS Nonsynonymous[Phe81Leu]
376 .. 376 T/G rs2297411 + CDS Nonsynonymous[His85Gln]
378 .. 378 C/T rs150377969 + CDS Nonsynonymous[Ala86Val]
379 .. 379 A/C rs137872711 + CDS Synonymous[Ala86Ala]
380 .. 380 G/A rs138572539 + CDS Nonsynonymous[Ala87Thr]
384 .. 384 G/T rs141687205 + CDS Nonsynonymous[Gly88Val]
412 .. 412 C/T rs111529228 + CDS Synonymous[Ser97Ser]
413 .. 413 G/T rs200000374 + CDS Nonsynonymous[Ala98Ser]
419 .. 419 G/T rs150696959 + CDS Nonsynonymous[Asp100Tyr]
446 .. 446 C/G rs201479287 + CDS Nonsynonymous[His109Asp]
456 .. 456 G/A rs147889685 + CDS Nonsynonymous[Ser112Asn]
505 .. 505 C/T rs139970507 + CDS Synonymous[Ala128Ala]
523 .. 523 C/T rs200182503 + CDS Synonymous[Ala134Ala]
588 .. 588 T/C rs147812454 + CDS Nonsynonymous[Met156Thr]
593 .. 593 T/C rs142652509 + CDS Nonsynonymous[Phe158Leu]
642 .. 642 C/A rs181579601 + CDS Nonsynonymous[Thr174Lys]
646 .. 646 C/T rs201787750 + CDS Synonymous[Ala175Ala]
685 .. 685 C/T rs140897240 + CDS Synonymous[Pro188Pro]
708 .. 708 C/T rs200762439 + CDS Nonsynonymous[Thr196Met]
715 .. 715 C/T rs138547552 + CDS Synonymous[Ser198Ser]
722 .. 722 G/T rs188599627 + CDS Nonsynonymous[Ala201Ser]
726 .. 726 G/A rs145350362 + CDS Nonsynonymous[Arg202Gln]
732 .. 732 G/A rs200541514 + CDS Nonsynonymous[Arg204Gln]
739 .. 739 G/A rs115855910 + CDS Synonymous[Val206Val]
758 .. 758 C/T rs119468005 + CDS Nonsynonymous[Arg213Trp]
800 .. 800 G/A rs199694417 + CDS Nonsynonymous[Gly227Arg]
844 .. 844 C/- rs35757883 + CDS
851 .. 851 G/C rs199619932 + CDS Nonsynonymous[Gly244Arg]
863 .. 863 G/A rs148376283 + CDS Nonsynonymous[Val248Met]
866 .. 866 C/T rs199958142 + CDS Synonymous[Leu249Leu]
901 .. 901 A/G rs147447166 + CDS Synonymous[Ala260Ala]
906 .. 906 G/A rs145422777 + CDS Nonsynonymous[Arg262Gln]
915 .. 915 G/A rs199696414 + CDS Nonsynonymous[Arg265His]
918 .. 918 C/T rs149924675 + CDS Nonsynonymous[Thr266Met]
932 .. 932 C/T rs145034527 + CDS Nonsynonymous[Arg271Cys]
936 .. 936 G/A/T rs119468006 + CDS
975 .. 975 A/C rs143493998 + CDS Nonsynonymous[Asp285Ala]
994 .. 994 C/T rs200849486 + CDS Synonymous[Pro291Pro]
997 .. 997 C/G rs200155917 + CDS Nonsynonymous[His292Gln]
1012 .. 1012 C/T rs55968053 + CDS Synonymous[Phe297Phe]
1016 .. 1016 C/T rs201908721 + CDS Nonsynonymous[Arg299Trp]
1022 .. 1022 C/T rs140246430 + CDS Nonsynonymous[Arg301Trp]
1030 .. 1030 C/T rs202036077 + CDS Synonymous[Ser303Ser]
1069 .. 1069 C/T rs55637780 + CDS Synonymous[Leu316Leu]
1110 .. 1110 A/G rs150243147 + CDS Nonsynonymous[Tyr330Cys]
1112 .. 1112 T/C rs201334858 + CDS Nonsynonymous[Phe331Leu]
1114 .. 1114 C/T rs41303129 + CDS Synonymous[Phe331Phe]
1130 .. 1130 G/A rs143816043 + CDS Nonsynonymous[Ala337Thr]
1132 .. 1132 C/T rs36006006 + CDS Synonymous[Ala337Ala]
1141 .. 1141 C/T rs181558991 + CDS Synonymous[Ser340Ser]
1143 .. 1143 T/C rs55798516 + CDS Nonsynonymous[Ile341Thr]
1174 .. 1174 C/T rs55958233 + CDS Synonymous[Gly351Gly]
1210 .. 1210 C/T rs139570869 + CDS Synonymous[Gly363Gly]
1229 .. 1229 A/G rs180784380 + CDS Nonsynonymous[Ser370Gly]
1241 .. 1241 A/C rs146751657 + CDS Nonsynonymous[Asn374His]
1306 .. 1306 T/C rs17849927 + CDS Synonymous[Ile395Ile]
1309 .. 1309 C/T rs139133094 + CDS Synonymous[Asp396Asp]
1314 .. 1314 T/C rs199921339 + CDS Nonsynonymous[Leu398Pro]
1336 .. 1336 G/A rs149048093 + CDS Synonymous[Glu405Glu]
1367 .. 1367 C/T rs151292389 + CDS Nonsynonymous[Arg416Cys]
1372 .. 1372 G/A rs202227926 + CDS Synonymous[Lys417Lys]
1379 .. 1379 G/A rs147097934 + CDS Nonsynonymous[Asp420Asn]
1385 .. 1385 C/T rs200375779 + CDS Synonymous[Leu422Leu]
1407 .. 1407 A/G rs144147839 + CDS Nonsynonymous[Tyr429Cys]
1453 .. 1453 C/T rs138727410 + CDS Synonymous[Thr444Thr]
1499 .. 1499 A/G rs149364914 + CDS Nonsynonymous[Ser460Gly]
1511 .. 1511 C/T rs139900636 + CDS Nonsynonymous[Arg464Trp]
1517 .. 1517 G/A rs201134290 + CDS Nonsynonymous[Glu466Lys]
1530 .. 1530 A/G rs200800365 + CDS Nonsynonymous[Asn470Ser]
1543 .. 1543 G/A rs202132812 + CDS Synonymous[Leu474Leu]
1551 .. 1551 G/- rs34158214 + CDS
1561 .. 1561 C/T rs12593 - CDS Synonymous[Phe480Phe]
1600 .. 1600 C/A rs150918577 + CDS Nonsynonymous[Asn493Lys]
1654 .. 1654 G/A rs201337210 + CDS Synonymous[Thr511Thr]
1655 .. 1655 C/T rs149682899 + CDS Nonsynonymous[Arg512Trp]
1656 .. 1656 G/A rs200115323 + CDS Nonsynonymous[Arg512Gln]
1662 .. 1662 A/G rs119468008 + CDS Nonsynonymous[Tyr514Cys]
1677 .. 1677 C/G rs141260985 + CDS Nonsynonymous[Thr519Ser]
1688 .. 1688 A/G rs147730489 + CDS Nonsynonymous[Ile523Val]
1712 .. 1712 G/A rs200930703 + CDS Nonsynonymous[Asp531Asn]
1726 .. 1726 G/C rs201158713 + CDS Nonsynonymous[Glu535Asp]
1727 .. 1727 A/G rs200403220 + CDS Nonsynonymous[Thr536Ala]
1731 .. 1731 T/G rs199724504 + CDS Nonsynonymous[Val537Gly]
1733 .. 1733 C/T rs201331131 + CDS Nonsynonymous[Arg538Trp]
1738 .. 1738 G/A rs142600066 + CDS Synonymous[Ala539Ala]
1765 .. 1765 C/T rs141423403 + CDS Synonymous[Thr548Thr]
1766 .. 1766 G/A rs119468009 + CDS Nonsynonymous[Gly549Ser]
1772 .. 1772 G/A rs119468004 + CDS Nonsynonymous[Glu551Lys]
1786 .. 1786 G/A rs199874519 + CDS Nonsynonymous[Met555Ile]
1793 .. 1793 G/A rs142894121 + CDS Nonsynonymous[Ala558Thr]
1798 .. 1798 C/G rs200963031 + CDS Nonsynonymous[His559Gln]
1831 .. 1831 C/T rs139305619 + CDS Synonymous[Phe570Phe]
1837 .. 1837 T/C rs3738725 + CDS Synonymous[Ser572Ser]
1841 .. 1841 G/A rs202058665 + CDS Nonsynonymous[Glu574Lys]
1860 .. 1860 C/T rs199581236 + CDS Nonsynonymous[Thr580Ile]
1873 .. 1873 C/T rs201865243 + CDS Synonymous[Thr584Thr]
1876 .. 1876 G/C rs201171077 + CDS Nonsynonymous[Glu585Asp]
1878 .. 1878 A/G rs113308613 + CDS Nonsynonymous[Lys586Arg]
1886 .. 1886 A/C rs142051104 + CDS Nonsynonymous[Asn589His]
1897 .. 1897 C/T rs7545723 + CDS Synonymous[Pro592Pro]
1918 .. 1918 C/T rs139551241 + CDS Synonymous[Leu599Leu]
1921 .. 1921 C/G rs74589348 + CDS Synonymous[Val600Val]
1926 .. 1926 C/A/G rs61995958 + CDS
1937 .. 1937 A/C rs143650593 + CDS Nonsynonymous[Thr606Pro]
1942 .. 1942 C/T rs201618750 + CDS Synonymous[Tyr607Tyr]
1945 .. 1945 C/T rs141270350 + CDS Synonymous[Ser608Ser]
1987 .. 1987 G/A rs191944347 + CDS Synonymous[Lys622Lys]
1997 .. 1997 C/T rs141725964 + CDS Nonsynonymous[Arg626Cys]
2020 .. 2020 C/T rs150569155 + CDS Synonymous[Phe633Phe]
2021 .. 2021 G/A rs149335528 + CDS Nonsynonymous[Glu634Lys]
2035 .. 2035 C/T rs56043893 + CDS Synonymous[Ser638Ser]
2074 .. 2074 G/A rs200743857 + 3'UTR
2198 .. 2198 G/A rs149820067 + 3'UTR
2295 .. 2295 G/A rs117808661 + 3'UTR
2299 .. 2299 G/A rs188462608 + 3'UTR
2414 .. 2414 G/A rs113041399 + 3'UTR
2449 .. 2449 G/A rs113631619 + 3'UTR
2450 .. 2450 A/T rs112529851 + 3'UTR
2450 ^ 2451 -/T rs11420839 + 3'UTR
2454 ^ 2455 -/T rs199664948 + 3'UTR
2508 .. 2508 C/G rs12567953 + 3'UTR
2529 .. 2529 A/G rs8159 - 3'UTR
2574 .. 2574 G/A rs142056615 + 3'UTR
2708 .. 2708 G/A rs115542970 + 3'UTR
2721 .. 2721 G/A rs181352749 + 3'UTR
2746 .. 2746 G/A rs10482 - 3'UTR
2792 .. 2792 C/T rs16846762 + 3'UTR
2826 .. 2826 G/A rs145779574 + 3'UTR
2855 .. 2855 A/G rs12565212 + 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
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer