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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;

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  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

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;