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H-Invitational ID: HIT000017651 Accession number: AK092784 Created date: 26-Mar-2013 Last modified: 27-May-2015 Definition: Similar to 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 119 .. 119 A/G rs199604256 + 5'UTR 129 .. 129 T/A rs202075418 + 5'UTR 153 .. 153 C/T rs200052870 + 5'UTR 168 .. 168 A/G rs150221608 + CDS Synonymous[Gln4Gln] 180 .. 180 C/T rs142184584 + CDS Synonymous[Gly8Gly] 181 .. 181 G/A rs11549709 + CDS Nonsynonymous[Gly9Ser] 185 .. 185 G/A rs35582308 + CDS Nonsynonymous[Arg10His] 196 .. 196 C/T rs150541057 + CDS Nonsynonymous[Pro14Ser] 214 .. 214 C/T rs199919057 + CDS Nonsynonymous[Arg20Trp] 218 .. 218 G/A rs142125927 + CDS Nonsynonymous[Arg21Lys] 279 .. 279 C/T rs139970507 + CDS Synonymous[Ala41Ala] 297 .. 297 C/T rs200182503 + CDS Synonymous[Ala47Ala] 362 .. 362 T/C rs147812454 + CDS Nonsynonymous[Met69Thr] 367 .. 367 T/C rs142652509 + CDS Nonsynonymous[Phe71Leu] 416 .. 416 C/A rs181579601 + CDS Nonsynonymous[Thr87Lys] 420 .. 420 C/T rs201787750 + CDS Synonymous[Ala88Ala] 459 .. 459 C/T rs140897240 + CDS Synonymous[Pro101Pro] 482 .. 482 C/T rs200762439 + CDS Nonsynonymous[Thr109Met] 489 .. 489 C/T rs138547552 + CDS Synonymous[Ser111Ser] 496 .. 496 G/T rs188599627 + CDS Nonsynonymous[Ala114Ser] 500 .. 500 G/A rs145350362 + CDS Nonsynonymous[Arg115Gln] 506 .. 506 G/A rs200541514 + CDS Nonsynonymous[Arg117Gln] 513 .. 513 G/A rs115855910 + CDS Synonymous[Val119Val] 532 .. 532 C/T rs119468005 + CDS Nonsynonymous[Arg126Trp] 574 .. 574 G/A rs199694417 + CDS Nonsynonymous[Gly140Arg] 618 .. 618 C/- rs35757883 + CDS 625 .. 625 G/C rs199619932 + CDS Nonsynonymous[Gly157Arg] 637 .. 637 G/A rs148376283 + CDS Nonsynonymous[Val161Met] 640 .. 640 C/T rs199958142 + CDS Synonymous[Leu162Leu] 675 .. 675 A/G rs147447166 + CDS Synonymous[Ala173Ala] 680 .. 680 G/A rs145422777 + CDS Nonsynonymous[Arg175Gln] 689 .. 689 G/A rs199696414 + CDS Nonsynonymous[Arg178His] 692 .. 692 C/T rs149924675 + CDS Nonsynonymous[Thr179Met] 706 .. 706 C/T rs145034527 + CDS Nonsynonymous[Arg184Cys] 710 .. 710 G/A/T rs119468006 + CDS 749 .. 749 A/C rs143493998 + CDS Nonsynonymous[Asp198Ala] 768 .. 768 C/T rs200849486 + CDS Synonymous[Pro204Pro] 771 .. 771 C/G rs200155917 + CDS Nonsynonymous[His205Gln] 786 .. 786 C/T rs55968053 + CDS Synonymous[Phe210Phe] 790 .. 790 C/T rs201908721 + CDS Nonsynonymous[Arg212Trp] 796 .. 796 C/T rs140246430 + CDS Nonsynonymous[Arg214Trp] 804 .. 804 C/T rs202036077 + CDS Synonymous[Ser216Ser] 843 .. 843 C/T rs55637780 + CDS Synonymous[Leu229Leu] 884 .. 884 A/G rs150243147 + CDS Nonsynonymous[Tyr243Cys] 886 .. 886 T/C rs201334858 + CDS Nonsynonymous[Phe244Leu] 888 .. 888 C/T rs41303129 + CDS Synonymous[Phe244Phe] 904 .. 904 G/A rs143816043 + CDS Nonsynonymous[Ala250Thr] 906 .. 906 C/T rs36006006 + CDS Synonymous[Ala250Ala] 915 .. 915 C/T rs181558991 + CDS Synonymous[Ser253Ser] 917 .. 917 T/C rs55798516 + CDS Nonsynonymous[Ile254Thr] 948 .. 948 C/T rs55958233 + CDS Synonymous[Gly264Gly] 984 .. 984 C/T rs139570869 + CDS Synonymous[Gly276Gly] 1003 .. 1003 A/G rs180784380 + CDS Nonsynonymous[Ser283Gly] 1015 .. 1015 A/C rs146751657 + CDS Nonsynonymous[Asn287His] 1080 .. 1080 C/T rs17849927 + CDS Synonymous[Ile308Ile] 1083 .. 1083 C/T rs139133094 + CDS Synonymous[Asp309Asp] 1088 .. 1088 T/C rs199921339 + CDS Nonsynonymous[Leu311Pro] 1110 .. 1110 G/A rs149048093 + CDS Synonymous[Glu318Glu] 1141 .. 1141 C/T rs151292389 + CDS Nonsynonymous[Arg329Cys] 1146 .. 1146 G/A rs202227926 + CDS Synonymous[Lys330Lys] 1153 .. 1153 G/A rs147097934 + CDS Nonsynonymous[Asp333Asn] 1159 .. 1159 C/T rs200375779 + CDS Synonymous[Leu335Leu] 1181 .. 1181 A/G rs144147839 + CDS Nonsynonymous[Tyr342Cys] 1227 .. 1227 C/T rs138727410 + CDS Synonymous[Thr357Thr] 1273 .. 1273 A/G rs149364914 + CDS Nonsynonymous[Ser373Gly] 1285 .. 1285 C/T rs139900636 + CDS Nonsynonymous[Arg377Trp] 1291 .. 1291 G/A rs201134290 + CDS Nonsynonymous[Glu379Lys] 1304 .. 1304 A/G rs200800365 + CDS Nonsynonymous[Asn383Ser] 1317 .. 1317 G/A rs202132812 + CDS Synonymous[Leu387Leu] 1325 .. 1325 G/- rs34158214 + CDS 1335 .. 1335 C/T rs12593 - CDS Synonymous[Phe393Phe] 1374 .. 1374 C/A rs150918577 + CDS Nonsynonymous[Asn406Lys] 1428 .. 1428 G/A rs201337210 + CDS Synonymous[Thr424Thr] 1429 .. 1429 C/T rs149682899 + CDS Nonsynonymous[Arg425Trp] 1430 .. 1430 G/A rs200115323 + CDS Nonsynonymous[Arg425Gln] 1436 .. 1436 A/G rs119468008 + CDS Nonsynonymous[Tyr427Cys] 1451 .. 1451 C/G rs141260985 + CDS Nonsynonymous[Thr432Ser] 1462 .. 1462 A/G rs147730489 + CDS Nonsynonymous[Ile436Val] 1486 .. 1486 G/A rs200930703 + CDS Nonsynonymous[Asp444Asn] 1500 .. 1500 G/C rs201158713 + CDS Nonsynonymous[Glu448Asp] 1501 .. 1501 A/G rs200403220 + CDS Nonsynonymous[Thr449Ala] 1505 .. 1505 T/G rs199724504 + CDS Nonsynonymous[Val450Gly] 1507 .. 1507 C/T rs201331131 + CDS Nonsynonymous[Arg451Trp] 1512 .. 1512 G/A rs142600066 + CDS Synonymous[Ala452Ala] 1539 .. 1539 C/T rs141423403 + CDS Synonymous[Thr461Thr] 1540 .. 1540 G/A rs119468009 + CDS Nonsynonymous[Gly462Ser] 1546 .. 1546 G/A rs119468004 + CDS Nonsynonymous[Glu464Lys] 1560 .. 1560 G/A rs199874519 + CDS Nonsynonymous[Met468Ile] 1567 .. 1567 G/A rs142894121 + CDS Nonsynonymous[Ala471Thr] 1572 .. 1572 C/G rs200963031 + CDS Nonsynonymous[His472Gln] 1605 .. 1605 C/T rs139305619 + CDS Synonymous[Phe483Phe] 1611 .. 1611 T/C rs3738725 + CDS Synonymous[Ser485Ser] 1615 .. 1615 G/A rs202058665 + CDS Nonsynonymous[Glu487Lys] 1634 .. 1634 C/T rs199581236 + CDS Nonsynonymous[Thr493Ile] 1647 .. 1647 C/T rs201865243 + CDS Synonymous[Thr497Thr] 1650 .. 1650 G/C rs201171077 + CDS Nonsynonymous[Glu498Asp] 1652 .. 1652 A/G rs113308613 + CDS Nonsynonymous[Lys499Arg] 1660 .. 1660 A/C rs142051104 + CDS Nonsynonymous[Asn502His] 1671 .. 1671 C/T rs7545723 + CDS Synonymous[Pro505Pro] 1692 .. 1692 C/T rs139551241 + CDS Synonymous[Leu512Leu] 1695 .. 1695 C/G rs74589348 + CDS Synonymous[Val513Val] 1700 .. 1700 C/A/G rs61995958 + CDS 1711 .. 1711 A/C rs143650593 + CDS Nonsynonymous[Thr519Pro] 1716 .. 1716 C/T rs201618750 + CDS Synonymous[Tyr520Tyr] 1719 .. 1719 C/T rs141270350 + CDS Synonymous[Ser521Ser] 1761 .. 1761 G/A rs191944347 + CDS Synonymous[Lys535Lys] 1771 .. 1771 C/T rs141725964 + CDS Nonsynonymous[Arg539Cys] 1794 .. 1794 C/T rs150569155 + CDS Synonymous[Phe546Phe] 1795 .. 1795 G/A rs149335528 + CDS Nonsynonymous[Glu547Lys] 1809 .. 1809 C/T rs56043893 + CDS Synonymous[Ser551Ser] 1848 .. 1848 G/A rs200743857 + 3'UTR 1972 .. 1972 G/A rs149820067 + 3'UTR 2069 .. 2069 G/A rs117808661 + 3'UTR 2073 .. 2073 G/A rs188462608 + 3'UTR 2188 .. 2188 G/A rs113041399 + 3'UTR 2223 .. 2223 G/A rs113631619 + 3'UTR 2224 .. 2224 A/T rs112529851 + 3'UTR 2224 ^ 2225 -/T rs11420839 + 3'UTR 2228 ^ 2229 -/T rs199664948 + 3'UTR 2282 .. 2282 C/G rs12567953 + 3'UTR 2303 .. 2303 G/A rs8159 - 3'UTR 2348 .. 2348 G/A rs142056615 + 3'UTR 2482 .. 2482 G/A rs115542970 + 3'UTR 2495 .. 2495 G/A rs181352749 + 3'UTR 2520 .. 2520 G/A rs10482 - 3'UTR 2566 .. 2566 C/T rs16846762 + 3'UTR 2600 .. 2600 G/A rs145779574 + 3'UTR 2629 .. 2629 A/G rs12565212 + 3'UTR 2646 ^ 2647 -/T rs140711993 + 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;