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H-Invitational ID: HIT000074248 Accession number: AF218003 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
1 .. 1 C/T rs55958233 + 5'UTR
37 .. 37 C/T rs139570869 + 5'UTR
56 .. 56 A/G rs180784380 + 5'UTR
68 .. 68 A/C rs146751657 + 5'UTR
133 .. 133 C/T rs17849927 + 5'UTR
136 .. 136 C/T rs139133094 + 5'UTR
141 .. 141 T/C rs199921339 + 5'UTR
163 .. 163 G/A rs149048093 + 5'UTR
194 .. 194 C/T rs151292389 + CDS Nonsynonymous[Pro9Leu]
199 .. 199 G/A rs202227926 + CDS Nonsynonymous[Val11Ile]
220 .. 220 G/A rs185185707 + CDS Nonsynonymous[Gly18Arg]
234 .. 234 T/- rs3215919 + CDS
240 .. 240 C/A rs200965287 + CDS Nonsynonymous[His24Gln]
244 .. 244 G/A rs149505935 + CDS Nonsynonymous[Gly26Arg]
384 ^ 385 -/T rs149374145 + CDS
386 .. 386 G/T rs1574184 + CDS Nonsynonymous[Gly73Val]
387 ^ 388 -/T rs201300405 + CDS
388 .. 388 G/C/T rs1574185 + CDS
435 .. 435 C/T rs200440257 + CDS Synonymous[Pro89Pro]
445 .. 445 G/A rs147097934 + CDS Nonsynonymous[Asp93Asn]
451 .. 451 C/T rs200375779 + CDS Synonymous[Leu95Leu]
473 .. 473 A/G rs144147839 + CDS Nonsynonymous[Tyr102Cys]
519 .. 519 C/T rs138727410 + CDS Synonymous[Thr117Thr]
565 .. 565 A/G rs149364914 + CDS Nonsynonymous[Ser133Gly]
577 .. 577 C/T rs139900636 + CDS Nonsynonymous[Arg137Trp]
583 .. 583 G/A rs201134290 + CDS Nonsynonymous[Glu139Lys]
596 .. 596 A/G rs200800365 + CDS Nonsynonymous[Asn143Ser]
609 .. 609 G/A rs202132812 + CDS Synonymous[Leu147Leu]
617 .. 617 G/- rs34158214 + CDS
627 .. 627 C/T rs12593 - CDS Synonymous[Phe153Phe]
666 .. 666 C/A rs150918577 + CDS Nonsynonymous[Asn166Lys]
720 .. 720 G/A rs201337210 + CDS Synonymous[Thr184Thr]
721 .. 721 C/T rs149682899 + CDS Nonsynonymous[Arg185Trp]
722 .. 722 G/A rs200115323 + CDS Nonsynonymous[Arg185Gln]
728 .. 728 A/G rs119468008 + CDS Nonsynonymous[Tyr187Cys]
743 .. 743 C/G rs141260985 + CDS Nonsynonymous[Thr192Ser]
754 .. 754 A/G rs147730489 + CDS Nonsynonymous[Ile196Val]
778 .. 778 G/A rs200930703 + CDS Nonsynonymous[Asp204Asn]
792 .. 792 G/C rs201158713 + CDS Nonsynonymous[Glu208Asp]
793 .. 793 A/G rs200403220 + CDS Nonsynonymous[Thr209Ala]
797 .. 797 T/G rs199724504 + CDS Nonsynonymous[Val210Gly]
799 .. 799 C/T rs201331131 + CDS Nonsynonymous[Arg211Trp]
804 .. 804 G/A rs142600066 + CDS Synonymous[Ala212Ala]
831 .. 831 C/T rs141423403 + CDS Synonymous[Thr221Thr]
832 .. 832 G/A rs119468009 + CDS Nonsynonymous[Gly222Ser]
838 .. 838 G/A rs119468004 + CDS Nonsynonymous[Glu224Lys]
852 .. 852 G/A rs199874519 + CDS Nonsynonymous[Met228Ile]
859 .. 859 G/A rs142894121 + CDS Nonsynonymous[Ala231Thr]
864 .. 864 C/G rs200963031 + CDS Nonsynonymous[His232Gln]
897 .. 897 C/T rs139305619 + CDS Synonymous[Phe243Phe]
903 .. 903 T/C rs3738725 + CDS Synonymous[Ser245Ser]
907 .. 907 G/A rs202058665 + CDS Nonsynonymous[Glu247Lys]
926 .. 926 C/T rs199581236 + CDS Nonsynonymous[Thr253Ile]
939 .. 939 C/T rs201865243 + CDS Synonymous[Thr257Thr]
942 .. 942 G/C rs201171077 + CDS Nonsynonymous[Glu258Asp]
944 .. 944 A/G rs113308613 + CDS Nonsynonymous[Lys259Arg]
952 .. 952 A/C rs142051104 + CDS Nonsynonymous[Asn262His]
963 .. 963 C/T rs7545723 + CDS Synonymous[Pro265Pro]
984 .. 984 C/T rs139551241 + CDS Synonymous[Leu272Leu]
987 .. 987 C/G rs74589348 + CDS Synonymous[Val273Val]
992 .. 992 C/A/G rs61995958 + CDS
1003 .. 1003 A/C rs143650593 + CDS Nonsynonymous[Thr279Pro]
1008 .. 1008 C/T rs201618750 + CDS Synonymous[Tyr280Tyr]
1011 .. 1011 C/T rs141270350 + CDS Synonymous[Ser281Ser]
1053 .. 1053 G/A rs191944347 + CDS Synonymous[Lys295Lys]
1063 .. 1063 C/T rs141725964 + CDS Nonsynonymous[Arg299Cys]
1086 .. 1086 C/T rs150569155 + CDS Synonymous[Phe306Phe]
1087 .. 1087 G/A rs149335528 + CDS Nonsynonymous[Glu307Lys]
1101 .. 1101 C/T rs56043893 + CDS Synonymous[Ser311Ser]
1140 .. 1140 G/A rs200743857 + 3'UTR
1264 .. 1264 G/A rs149820067 + 3'UTR
1361 .. 1361 G/A rs117808661 + 3'UTR
1365 .. 1365 G/A rs188462608 + 3'UTR
1480 .. 1480 G/A rs113041399 + 3'UTR
1514 .. 1514 G/A rs113631619 + 3'UTR
1515 .. 1515 A/T rs112529851 + 3'UTR
1515 ^ 1516 -/T rs11420839 + 3'UTR
1519 ^ 1520 -/T rs199664948 + 3'UTR
1573 .. 1573 C/G rs12567953 + 3'UTR
1594 .. 1594 A/G rs8159 - 3'UTR
1639 .. 1639 G/A rs142056615 + 3'UTR
1773 .. 1773 G/A rs115542970 + 3'UTR
1786 .. 1786 G/A rs181352749 + 3'UTR
1811 .. 1811 A/G rs10482 - 3'UTR
1857 .. 1857 C/T rs16846762 + 3'UTR
1891 .. 1891 G/A rs145779574 + 3'UTR
1920 .. 1920 A/G rs12565212 + 3'UTR
1937 ^ 1938 -/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
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