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H-Invitational ID: HIT000025799 Accession number: AL137511 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;
 
 

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
30 .. 30 C/T rs139570869 + CDS Synonymous[Gly10Gly]
49 .. 49 A/G rs180784380 + CDS Nonsynonymous[Ser17Gly]
61 .. 61 A/C rs146751657 + CDS Nonsynonymous[Asn21His]
126 .. 126 C/T rs17849927 + CDS Synonymous[Ile42Ile]
129 .. 129 C/T rs139133094 + CDS Synonymous[Asp43Asp]
134 .. 134 T/C rs199921339 + CDS Nonsynonymous[Leu45Pro]
156 .. 156 G/A rs149048093 + CDS Synonymous[Glu52Glu]
187 .. 187 C/T rs151292389 + CDS Nonsynonymous[Arg63Cys]
192 .. 192 G/A rs202227926 + CDS Synonymous[Lys64Lys]
199 .. 199 G/A rs147097934 + CDS Nonsynonymous[Asp67Asn]
205 .. 205 C/T rs200375779 + CDS Synonymous[Leu69Leu]
227 .. 227 A/G rs144147839 + CDS Nonsynonymous[Tyr76Cys]
273 .. 273 C/T rs138727410 + CDS Synonymous[Thr91Thr]
319 .. 319 A/G rs149364914 + CDS Nonsynonymous[Ser107Gly]
331 .. 331 C/T rs139900636 + CDS Nonsynonymous[Arg111Trp]
337 .. 337 G/A rs201134290 + CDS Nonsynonymous[Glu113Lys]
350 .. 350 A/G rs200800365 + CDS Nonsynonymous[Asn117Ser]
363 .. 363 G/A rs202132812 + CDS Synonymous[Leu121Leu]
371 .. 371 G/- rs34158214 + CDS
381 .. 381 C/T rs12593 - CDS Synonymous[Phe127Phe]
420 .. 420 C/A rs150918577 + CDS Nonsynonymous[Asn140Lys]
474 .. 474 G/A rs201337210 + CDS Synonymous[Thr158Thr]
475 .. 475 C/T rs149682899 + CDS Nonsynonymous[Arg159Trp]
476 .. 476 G/A rs200115323 + CDS Nonsynonymous[Arg159Gln]
482 .. 482 A/G rs119468008 + CDS Nonsynonymous[Tyr161Cys]
497 .. 497 C/G rs141260985 + CDS Nonsynonymous[Thr166Ser]
508 .. 508 A/G rs147730489 + CDS Nonsynonymous[Ile170Val]
532 .. 532 G/A rs200930703 + CDS Nonsynonymous[Asp178Asn]
546 .. 546 G/C rs201158713 + CDS Nonsynonymous[Glu182Asp]
547 .. 547 A/G rs200403220 + CDS Nonsynonymous[Thr183Ala]
551 .. 551 T/G rs199724504 + CDS Nonsynonymous[Val184Gly]
553 .. 553 C/T rs201331131 + CDS Nonsynonymous[Arg185Trp]
558 .. 558 G/A rs142600066 + CDS Synonymous[Ala186Ala]
585 .. 585 C/T rs141423403 + CDS Synonymous[Thr195Thr]
586 .. 586 G/A rs119468009 + CDS Nonsynonymous[Gly196Ser]
592 .. 592 G/A rs119468004 + CDS Nonsynonymous[Glu198Lys]
606 .. 606 G/A rs199874519 + CDS Nonsynonymous[Met202Ile]
613 .. 613 G/A rs142894121 + CDS Nonsynonymous[Ala205Thr]
618 .. 618 C/G rs200963031 + CDS Nonsynonymous[His206Gln]
651 .. 651 C/T rs139305619 + CDS Synonymous[Phe217Phe]
657 .. 657 T/C rs3738725 + CDS Synonymous[Ser219Ser]
661 .. 661 G/A rs202058665 + CDS Nonsynonymous[Glu221Lys]
680 .. 680 C/T rs199581236 + CDS Nonsynonymous[Thr227Ile]
693 .. 693 C/T rs201865243 + CDS Synonymous[Thr231Thr]
696 .. 696 G/C rs201171077 + CDS Nonsynonymous[Glu232Asp]
698 .. 698 A/G rs113308613 + CDS Nonsynonymous[Lys233Arg]
706 .. 706 A/C rs142051104 + CDS Nonsynonymous[Asn236His]
717 .. 717 C/T rs7545723 + CDS Synonymous[Pro239Pro]
738 .. 738 C/T rs139551241 + CDS Synonymous[Leu246Leu]
741 .. 741 C/G rs74589348 + CDS Synonymous[Val247Val]
746 .. 746 C/A/G rs61995958 + CDS
757 .. 757 A/C rs143650593 + CDS Nonsynonymous[Thr253Pro]
762 .. 762 C/T rs201618750 + CDS Synonymous[Tyr254Tyr]
765 .. 765 C/T rs141270350 + CDS Synonymous[Ser255Ser]
807 .. 807 G/A rs191944347 + CDS Synonymous[Lys269Lys]
817 .. 817 C/T rs141725964 + CDS Nonsynonymous[Arg273Cys]
840 .. 840 C/T rs150569155 + CDS Synonymous[Phe280Phe]
841 .. 841 G/A rs149335528 + CDS Nonsynonymous[Glu281Lys]
855 .. 855 C/T rs56043893 + CDS Synonymous[Ser285Ser]
894 .. 894 G/A rs200743857 + 3'UTR
1018 .. 1018 G/A rs149820067 + 3'UTR
1115 .. 1115 G/A rs117808661 + 3'UTR
1119 .. 1119 G/A rs188462608 + 3'UTR
1234 .. 1234 G/A rs113041399 + 3'UTR
1269 .. 1269 G/A rs113631619 + 3'UTR
1270 .. 1270 A/T rs112529851 + 3'UTR
1270 ^ 1271 -/T rs11420839 + 3'UTR
1274 ^ 1275 -/T rs199664948 + 3'UTR
1328 .. 1328 C/G rs12567953 + 3'UTR
1349 .. 1349 A/G rs8159 - 3'UTR
1394 .. 1394 G/A rs142056615 + 3'UTR
1528 .. 1528 G/A rs115542970 + 3'UTR
1541 .. 1541 G/A rs181352749 + 3'UTR
1566 .. 1566 A/G rs10482 - 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