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H-Invitational ID: HIT000046339 Accession number: AK126466 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 72 .. 72 A/G rs187646928 + 5'UTR 90 .. 90 T/G rs1800671 + 5'UTR 143 .. 143 C/T rs192567835 + 5'UTR 158 .. 158 A/G rs114893547 + 5'UTR 209 .. 209 C/T rs115762664 + 5'UTR 210 .. 210 G/A rs139814638 + 5'UTR 226 .. 226 T/C rs1800672 + 5'UTR 338 .. 338 G/C rs16846631 + 5'UTR 375 .. 375 A/- rs71861771 + 5'UTR 380 .. 380 A/G rs185108304 + 5'UTR 393 .. 393 G/A rs190356243 + 5'UTR 410 .. 410 C/T rs1800673 + 5'UTR 502 .. 502 A/G rs71648404 + 5'UTR 577 .. 577 A/G rs192701789 + 5'UTR 588 .. 588 G/A rs1800674 + 5'UTR 601 .. 601 G/T rs184715537 + 5'UTR 789 .. 789 G/T rs142359473 + 5'UTR 865 .. 865 G/A rs12068726 + 5'UTR 868 .. 868 T/C rs116594577 + 5'UTR 917 .. 917 T/A rs151283928 + 5'UTR 959 .. 959 T/C rs6676065 + 5'UTR 961 .. 961 T/A rs6676067 + 5'UTR 1040 .. 1040 T/C rs7530352 + 5'UTR 1100 .. 1100 A/T rs140488664 + 5'UTR 1118 .. 1118 G/A rs188684684 + 5'UTR 1155 .. 1155 T/A rs180759917 + 5'UTR 1164 .. 1164 C/A rs185373506 + 5'UTR 1171 .. 1171 C/T rs189394688 + 5'UTR 1173 .. 1173 G/A rs149996145 + 5'UTR 1191 ^ 1192 -/G rs35074916 + 5'UTR 1235 .. 1235 C/T rs146544825 + 5'UTR 1236 .. 1236 G/A rs181998204 + 5'UTR 1260 .. 1260 G/T rs141434674 + 5'UTR 1301 .. 1301 G/A rs201564908 + 5'UTR 1503 .. 1503 T/C rs145136435 + 5'UTR 1654 .. 1654 G/A rs186736576 + 5'UTR 1667 .. 1667 A/G rs138973233 + 5'UTR 1701 .. 1701 C/T rs2855564 + 5'UTR 1723 .. 1723 A/G rs6426555 + 5'UTR 1850 .. 1850 A/G rs192038467 + 5'UTR 1921 .. 1921 A/G rs183482270 + 5'UTR 1927 .. 1927 C/T rs186320033 + 5'UTR 2007 .. 2007 G/T rs16846644 + 5'UTR 2082 .. 2082 G/C rs180736874 + 5'UTR 2186 .. 2186 C/A rs138360609 + 5'UTR 2187 .. 2187 G/A rs12035060 + 5'UTR 2242 .. 2242 C/T rs149324253 + 5'UTR 2282 .. 2282 C/T rs182779372 + 5'UTR 2283 .. 2283 G/A rs187692774 + 5'UTR 2345 .. 2345 G/A rs193250427 + 5'UTR 2427 .. 2427 T/A rs72758693 + 5'UTR 2449 .. 2449 C/T rs145529997 + 5'UTR 2491 .. 2491 T/C rs185383882 + 5'UTR 2504 .. 2504 G/A rs113452228 + 5'UTR 2516 .. 2516 C/T rs189414759 + 5'UTR 2524 .. 2524 A/G rs148844221 + 5'UTR 2526 .. 2526 C/T rs142535232 + 5'UTR 2561 .. 2561 C/A rs182018909 + 5'UTR 2628 .. 2628 G/A rs12730465 + 5'UTR 2772 .. 2772 A/G rs199604256 + CDS Nonsynonymous[Met1Val] 2782 .. 2782 T/A rs202075418 + CDS Nonsynonymous[Ile4Lys] 2806 .. 2806 C/T rs200052870 + CDS Nonsynonymous[Ala12Val] 2821 .. 2821 A/G rs150221608 + CDS Nonsynonymous[Lys17Arg] 2833 .. 2833 C/T rs142184584 + CDS Nonsynonymous[Ala21Val] 2834 .. 2834 G/A rs11549709 + CDS Synonymous[Ala21Ala] 2838 .. 2838 G/A rs35582308 + CDS Nonsynonymous[Val23Met] 2849 .. 2849 C/T rs150541057 + CDS Synonymous[His26His] 2867 .. 2867 C/T rs199919057 + CDS Synonymous[Ile32Ile] 2871 .. 2871 G/A rs142125927 + CDS Nonsynonymous[Gly34Arg] 2888 .. 2888 A/G rs11549708 + CDS Synonymous[Ala39Ala] 2908 .. 2908 C/T rs187123516 + CDS Nonsynonymous[Thr46Met] 2942 .. 2942 G/C rs200123840 + CDS Nonsynonymous[Lys57Asn] 3002 .. 3002 G/A rs201037948 + CDS Synonymous[Gly77Gly] 3009 .. 3009 C/T rs76249490 + CDS Nonsynonymous[His80Tyr] 3011 .. 3011 C/T rs113667144 + CDS Synonymous[His80His] 3012 .. 3012 T/C rs200349511 + CDS Nonsynonymous[Phe81Leu] 3026 .. 3026 T/G rs2297411 + CDS Nonsynonymous[His85Gln] 3028 .. 3028 C/T rs150377969 + CDS Nonsynonymous[Ala86Val] 3029 .. 3029 A/C rs137872711 + CDS Synonymous[Ala86Ala] 3030 .. 3030 G/A rs138572539 + CDS Nonsynonymous[Ala87Thr] 3034 .. 3034 G/T rs141687205 + CDS Nonsynonymous[Gly88Val] 3062 .. 3062 C/T rs111529228 + CDS Synonymous[Ser97Ser] 3063 .. 3063 G/T rs200000374 + CDS Nonsynonymous[Ala98Ser] 3069 .. 3069 G/T rs150696959 + CDS Nonsynonymous[Asp100Tyr] 3096 .. 3096 C/G rs201479287 + CDS Nonsynonymous[His109Asp] 3106 .. 3106 G/A rs147889685 + CDS Nonsynonymous[Ser112Asn] 3155 .. 3155 C/T rs139970507 + CDS Synonymous[Ala128Ala] 3173 .. 3173 C/T rs200182503 + CDS Synonymous[Ala134Ala] 3238 .. 3238 T/C rs147812454 + CDS Nonsynonymous[Met156Thr] 3243 .. 3243 T/C rs142652509 + CDS Nonsynonymous[Phe158Leu] 3292 .. 3292 C/A rs181579601 + CDS Nonsynonymous[Thr174Lys] 3296 .. 3296 C/T rs201787750 + CDS Synonymous[Ala175Ala] 3335 .. 3335 C/T rs140897240 + CDS Synonymous[Pro188Pro] 3358 .. 3358 C/T rs200762439 + CDS Nonsynonymous[Thr196Met] 3365 .. 3365 C/T rs138547552 + CDS Synonymous[Ser198Ser] 3372 .. 3372 G/T rs188599627 + CDS Nonsynonymous[Ala201Ser] 3376 .. 3376 G/A rs145350362 + CDS Nonsynonymous[Arg202Gln] 3382 .. 3382 G/A rs200541514 + CDS Nonsynonymous[Arg204Gln] 3389 .. 3389 G/A rs115855910 + CDS Synonymous[Val206Val] 3408 .. 3408 C/T rs119468005 + CDS Nonsynonymous[Arg213Trp] 3450 .. 3450 G/A rs199694417 + CDS Nonsynonymous[Gly227Arg] 3494 .. 3494 C/- rs35757883 + CDS 3501 .. 3501 G/C rs199619932 + CDS Nonsynonymous[Gly244Arg] 3513 .. 3513 G/A rs148376283 + CDS Nonsynonymous[Val248Met] 3516 .. 3516 C/T rs199958142 + CDS Synonymous[Leu249Leu] 3551 .. 3551 A/G rs147447166 + CDS Synonymous[Ala260Ala] 3556 .. 3556 G/A rs145422777 + CDS Nonsynonymous[Arg262Gln] 3565 .. 3565 G/A rs199696414 + CDS Nonsynonymous[Arg265His] 3568 .. 3568 C/T rs149924675 + CDS Nonsynonymous[Thr266Met] 3582 .. 3582 C/T rs145034527 + CDS Nonsynonymous[Arg271Cys] 3586 .. 3586 G/A/T rs119468006 + CDS 3625 .. 3625 A/C rs143493998 + CDS Nonsynonymous[Asp285Ala] 3644 .. 3644 C/T rs200849486 + CDS Synonymous[Pro291Pro] 3647 .. 3647 C/G rs200155917 + CDS Nonsynonymous[His292Gln] 3662 .. 3662 C/T rs55968053 + CDS Synonymous[Phe297Phe] 3666 .. 3666 C/T rs201908721 + CDS Nonsynonymous[Arg299Trp] 3672 .. 3672 C/T rs140246430 + CDS Nonsynonymous[Arg301Trp] 3680 .. 3680 C/T rs202036077 + CDS Synonymous[Ser303Ser] 3719 .. 3719 C/T rs55637780 + CDS Synonymous[Leu316Leu] 3760 .. 3760 A/G rs150243147 + CDS Nonsynonymous[Tyr330Cys] 3762 .. 3762 T/C rs201334858 + CDS Nonsynonymous[Phe331Leu] 3764 .. 3764 C/T rs41303129 + CDS Synonymous[Phe331Phe] 3780 .. 3780 G/A rs143816043 + CDS Nonsynonymous[Ala337Thr] 3782 .. 3782 C/T rs36006006 + CDS Synonymous[Ala337Ala] 3791 .. 3791 C/T rs181558991 + CDS Synonymous[Ser340Ser] 3793 .. 3793 T/C rs55798516 + CDS Nonsynonymous[Ile341Thr] 3824 .. 3824 C/T rs55958233 + CDS Synonymous[Gly351Gly] 3860 .. 3860 C/T rs139570869 + CDS Synonymous[Gly363Gly] 3879 .. 3879 A/G rs180784380 + CDS Nonsynonymous[Ser370Gly] 3891 .. 3891 A/C rs146751657 + CDS Nonsynonymous[Asn374His] 3956 .. 3956 C/T rs17849927 + CDS Synonymous[Ile395Ile] 3959 .. 3959 C/T rs139133094 + CDS Synonymous[Asp396Asp] 3964 .. 3964 T/C rs199921339 + CDS Nonsynonymous[Leu398Pro] 3986 .. 3986 G/A rs149048093 + CDS Synonymous[Glu405Glu] 4017 .. 4017 C/T rs151292389 + CDS Nonsynonymous[Arg416Cys] 4022 .. 4022 G/A rs202227926 + CDS Synonymous[Lys417Lys] 4029 .. 4029 G/A rs147097934 + CDS Nonsynonymous[Asp420Asn] 4035 .. 4035 C/T rs200375779 + CDS Synonymous[Leu422Leu] 4057 .. 4057 A/G rs144147839 + CDS Nonsynonymous[Tyr429Cys] 4103 .. 4103 C/T rs138727410 + CDS Synonymous[Thr444Thr] 4149 .. 4149 A/G rs149364914 + CDS Nonsynonymous[Ser460Gly] 4161 .. 4161 C/T rs139900636 + CDS Nonsynonymous[Arg464Trp] 4167 .. 4167 G/A rs201134290 + CDS Nonsynonymous[Glu466Lys] 4180 .. 4180 A/G rs200800365 + CDS Nonsynonymous[Asn470Ser] 4193 .. 4193 G/A rs202132812 + CDS Synonymous[Leu474Leu] 4201 .. 4201 G/- rs34158214 + CDS 4211 .. 4211 T/C rs12593 - CDS Synonymous[Phe480Phe] 4250 .. 4250 C/A rs150918577 + CDS Nonsynonymous[Asn493Lys] 4304 .. 4304 G/A rs201337210 + CDS Synonymous[Thr511Thr] 4305 .. 4305 C/T rs149682899 + CDS Nonsynonymous[Arg512Trp] 4306 .. 4306 G/A rs200115323 + CDS Nonsynonymous[Arg512Gln] 4312 .. 4312 A/G rs119468008 + CDS Nonsynonymous[Tyr514Cys] 4327 .. 4327 C/G rs141260985 + CDS Nonsynonymous[Thr519Ser] 4338 .. 4338 A/G rs147730489 + CDS Nonsynonymous[Ile523Val] 4362 .. 4362 G/A rs200930703 + CDS Nonsynonymous[Asp531Asn] 4376 .. 4376 G/C rs201158713 + CDS Nonsynonymous[Glu535Asp] 4377 .. 4377 A/G rs200403220 + CDS Nonsynonymous[Thr536Ala] 4381 .. 4381 T/G rs199724504 + CDS Nonsynonymous[Val537Gly] 4383 .. 4383 C/T rs201331131 + CDS Nonsynonymous[Arg538Trp] 4388 .. 4388 G/A rs142600066 + CDS Synonymous[Ala539Ala] 4415 .. 4415 C/T rs141423403 + CDS Synonymous[Thr548Thr] 4416 .. 4416 G/A rs119468009 + CDS Nonsynonymous[Gly549Ser] 4422 .. 4422 G/A rs119468004 + CDS Nonsynonymous[Glu551Lys] 4436 .. 4436 G/A rs199874519 + CDS Nonsynonymous[Met555Ile] 4443 .. 4443 G/A rs142894121 + CDS Nonsynonymous[Ala558Thr] 4448 .. 4448 C/G rs200963031 + CDS Nonsynonymous[His559Gln] 4481 .. 4481 C/T rs139305619 + CDS Synonymous[Phe570Phe] 4487 .. 4487 C/T rs3738725 + CDS Synonymous[Ser572Ser] 4491 .. 4491 G/A rs202058665 + CDS Nonsynonymous[Glu574Lys] 4510 .. 4510 C/T rs199581236 + CDS Nonsynonymous[Thr580Ile] 4523 .. 4523 C/T rs201865243 + CDS Synonymous[Thr584Thr] 4526 .. 4526 G/C rs201171077 + CDS Nonsynonymous[Glu585Asp] 4528 .. 4528 A/G rs113308613 + CDS Nonsynonymous[Lys586Arg] 4536 .. 4536 A/C rs142051104 + CDS Nonsynonymous[Asn589His] 4547 .. 4547 C/T rs7545723 + CDS Synonymous[Pro592Pro] 4568 .. 4568 C/T rs139551241 + CDS Synonymous[Leu599Leu] 4571 .. 4571 C/G rs74589348 + CDS Synonymous[Val600Val] 4576 .. 4576 C/A/G rs61995958 + CDS 4587 .. 4587 A/C rs143650593 + CDS Nonsynonymous[Thr606Pro] 4592 .. 4592 C/T rs201618750 + CDS Synonymous[Tyr607Tyr] 4595 .. 4595 C/T rs141270350 + CDS Synonymous[Ser608Ser] 4637 .. 4637 G/A rs191944347 + CDS Synonymous[Lys622Lys] 4647 .. 4647 C/T rs141725964 + CDS Nonsynonymous[Arg626Cys] 4670 .. 4670 C/T rs150569155 + CDS Synonymous[Phe633Phe] 4671 .. 4671 G/A rs149335528 + CDS Nonsynonymous[Glu634Lys] 4685 .. 4685 C/T rs56043893 + CDS Synonymous[Ser638Ser] 4724 .. 4724 G/A rs200743857 + 3'UTR 4848 .. 4848 G/A rs149820067 + 3'UTR 4945 .. 4945 G/A rs117808661 + 3'UTR 4949 .. 4949 G/A rs188462608 + 3'UTR 5064 .. 5064 G/A rs113041399 + 3'UTR 5099 .. 5099 G/A rs113631619 + 3'UTR 5100 .. 5100 A/T rs112529851 + 3'UTR 5105 ^ 5106 -/T rs199664948 + 3'UTR 5159 .. 5159 C/G rs12567953 + 3'UTR 5180 .. 5180 G/A rs8159 - 3'UTR 5225 .. 5225 G/A rs142056615 + 3'UTR 5359 .. 5359 G/A rs115542970 + 3'UTR 5372 .. 5372 G/A rs181352749 + 3'UTR 5397 .. 5397 G/A rs10482 - 3'UTR 5443 .. 5443 C/T rs16846762 + 3'UTR 5477 .. 5477 G/A rs145779574 + 3'UTR 5506 .. 5506 A/G rs12565212 + 3'UTR 5523 ^ 5524 -/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  Type Start End Strand L1ME3Cz 89 270 - L1ME3Cz 297 419 - AluSq2 420 719 - L1ME3Cz 720 839 - L1ME3Cz 883 1090 - AluY 1091 1378 - L1ME3Cz 1379 1894 - AluJr 2181 2277 - AluSx 2308 2474 - AluSq2 2475 2548 - Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;