H-InvDB x AHG DB
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H-InvDB_9.0 released on May 27, 2015.
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H-Invitational ID: HIT000390003 Accession number: BC129930 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
42 .. 42 A/G rs183482270 + 5'UTR
48 .. 48 C/T rs186320033 + 5'UTR
128 .. 128 T/G rs16846644 + 5'UTR
203 .. 203 G/C rs180736874 + 5'UTR
307 .. 307 C/A rs138360609 + 5'UTR
308 .. 308 G/A rs12035060 + 5'UTR
363 .. 363 C/T rs149324253 + 5'UTR
403 .. 403 C/T rs182779372 + 5'UTR
404 .. 404 G/A rs187692774 + 5'UTR
466 .. 466 G/A rs193250427 + 5'UTR
548 .. 548 A/T rs72758693 + 5'UTR
570 .. 570 C/T rs145529997 + 5'UTR
612 .. 612 T/C rs185383882 + 5'UTR
625 .. 625 G/A rs113452228 + 5'UTR
637 .. 637 C/T rs189414759 + 5'UTR
645 .. 645 A/G rs148844221 + 5'UTR
647 .. 647 C/T rs142535232 + 5'UTR
682 .. 682 C/A rs182018909 + 5'UTR
764 .. 764 C/T rs139610210 + 5'UTR
871 .. 871 G/A rs12730465 + 5'UTR
1015 .. 1015 A/G rs199604256 + CDS Nonsynonymous[Met1Val]
1025 .. 1025 T/A rs202075418 + CDS Nonsynonymous[Ile4Lys]
1049 .. 1049 C/T rs200052870 + CDS Nonsynonymous[Ala12Val]
1064 .. 1064 A/G rs150221608 + CDS Nonsynonymous[Lys17Arg]
1076 .. 1076 C/T rs142184584 + CDS Nonsynonymous[Ala21Val]
1077 .. 1077 G/A rs11549709 + CDS Synonymous[Ala21Ala]
1081 .. 1081 G/A rs35582308 + CDS Nonsynonymous[Val23Met]
1092 .. 1092 C/T rs150541057 + CDS Synonymous[His26His]
1110 .. 1110 C/T rs199919057 + CDS Synonymous[Ile32Ile]
1114 .. 1114 G/A rs142125927 + CDS Nonsynonymous[Gly34Arg]
1131 .. 1131 G/A rs11549708 + CDS Synonymous[Ala39Ala]
1151 .. 1151 C/T rs187123516 + CDS Nonsynonymous[Thr46Met]
1185 .. 1185 G/C rs200123840 + CDS Nonsynonymous[Lys57Asn]
1245 .. 1245 G/A rs201037948 + CDS Synonymous[Gly77Gly]
1252 .. 1252 C/T rs76249490 + CDS Nonsynonymous[His80Tyr]
1254 .. 1254 C/T rs113667144 + CDS Synonymous[His80His]
1255 .. 1255 T/C rs200349511 + CDS Nonsynonymous[Phe81Leu]
1269 .. 1269 T/G rs2297411 + CDS Nonsynonymous[His85Gln]
1271 .. 1271 C/T rs150377969 + CDS Nonsynonymous[Ala86Val]
1272 .. 1272 A/C rs137872711 + CDS Synonymous[Ala86Ala]
1273 .. 1273 G/A rs138572539 + CDS Nonsynonymous[Ala87Thr]
1277 .. 1277 G/T rs141687205 + CDS Nonsynonymous[Gly88Val]
1305 .. 1305 C/T rs111529228 + CDS Synonymous[Ser97Ser]
1306 .. 1306 G/T rs200000374 + CDS Nonsynonymous[Ala98Ser]
1312 .. 1312 G/T rs150696959 + CDS Nonsynonymous[Asp100Tyr]
1339 .. 1339 C/G rs201479287 + CDS Nonsynonymous[His109Asp]
1349 .. 1349 G/A rs147889685 + CDS Nonsynonymous[Ser112Asn]
1398 .. 1398 C/T rs139970507 + CDS Synonymous[Ala128Ala]
1416 .. 1416 C/T rs200182503 + CDS Synonymous[Ala134Ala]
1481 .. 1481 T/C rs147812454 + CDS Nonsynonymous[Met156Thr]
1486 .. 1486 T/C rs142652509 + CDS Nonsynonymous[Phe158Leu]
1535 .. 1535 C/A rs181579601 + CDS Nonsynonymous[Thr174Lys]
1539 .. 1539 C/T rs201787750 + CDS Synonymous[Ala175Ala]
1578 .. 1578 C/T rs140897240 + CDS Synonymous[Pro188Pro]
1601 .. 1601 C/T rs200762439 + CDS Nonsynonymous[Thr196Met]
1608 .. 1608 C/T rs138547552 + CDS Synonymous[Ser198Ser]
1615 .. 1615 G/T rs188599627 + CDS Nonsynonymous[Ala201Ser]
1619 .. 1619 G/A rs145350362 + CDS Nonsynonymous[Arg202Gln]
1625 .. 1625 G/A rs200541514 + CDS Nonsynonymous[Arg204Gln]
1632 .. 1632 G/A rs115855910 + CDS Synonymous[Val206Val]
1651 .. 1651 C/T rs119468005 + CDS Nonsynonymous[Arg213Trp]
1693 .. 1693 G/A rs199694417 + CDS Nonsynonymous[Gly227Arg]
1737 .. 1737 C/- rs35757883 + CDS
1744 .. 1744 G/C rs199619932 + CDS Nonsynonymous[Gly244Arg]
1756 .. 1756 G/A rs148376283 + CDS Nonsynonymous[Val248Met]
1759 .. 1759 C/T rs199958142 + CDS Synonymous[Leu249Leu]
1794 .. 1794 A/G rs147447166 + CDS Synonymous[Ala260Ala]
1799 .. 1799 G/A rs145422777 + CDS Nonsynonymous[Arg262Gln]
1808 .. 1808 G/A rs199696414 + CDS Nonsynonymous[Arg265His]
1811 .. 1811 C/T rs149924675 + CDS Nonsynonymous[Thr266Met]
1825 .. 1825 C/T rs145034527 + CDS Nonsynonymous[Arg271Cys]
1829 .. 1829 G/A/T rs119468006 + CDS
1868 .. 1868 A/C rs143493998 + CDS Nonsynonymous[Asp285Ala]
1887 .. 1887 C/T rs200849486 + CDS Synonymous[Pro291Pro]
1890 .. 1890 C/G rs200155917 + CDS Nonsynonymous[His292Gln]
1905 .. 1905 C/T rs55968053 + CDS Synonymous[Phe297Phe]
1909 .. 1909 C/T rs201908721 + CDS Nonsynonymous[Arg299Trp]
1915 .. 1915 C/T rs140246430 + CDS Nonsynonymous[Arg301Trp]
1923 .. 1923 C/T rs202036077 + CDS Synonymous[Ser303Ser]
1962 .. 1962 C/T rs55637780 + CDS Synonymous[Leu316Leu]
2003 .. 2003 A/G rs150243147 + CDS Nonsynonymous[Tyr330Cys]
2005 .. 2005 T/C rs201334858 + CDS Nonsynonymous[Phe331Leu]
2007 .. 2007 C/T rs41303129 + CDS Synonymous[Phe331Phe]
2023 .. 2023 G/A rs143816043 + CDS Nonsynonymous[Ala337Thr]
2025 .. 2025 C/T rs36006006 + CDS Synonymous[Ala337Ala]
2034 .. 2034 C/T rs181558991 + CDS Synonymous[Ser340Ser]
2036 .. 2036 T/C rs55798516 + CDS Nonsynonymous[Ile341Thr]
2067 .. 2067 C/T rs55958233 + CDS Synonymous[Gly351Gly]
2103 .. 2103 C/T rs139570869 + CDS Synonymous[Gly363Gly]
2122 .. 2122 A/G rs180784380 + CDS Nonsynonymous[Ser370Gly]
2134 .. 2134 A/C rs146751657 + CDS Nonsynonymous[Asn374His]
2199 .. 2199 C/T rs17849927 + CDS Synonymous[Ile395Ile]
2202 .. 2202 C/T rs139133094 + CDS Synonymous[Asp396Asp]
2207 .. 2207 T/C rs199921339 + CDS Nonsynonymous[Leu398Pro]
2229 .. 2229 G/A rs149048093 + CDS Synonymous[Glu405Glu]
2260 .. 2260 C/T rs151292389 + 3'UTR
2265 .. 2265 G/A rs202227926 + 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
Type Start End Strand
SVA_A 303 515 +
AluSx 516 538 -
AluSq2 565 669 -
AluSx 700 822 -
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene Repeat mask viewerRepeat Mask Viewer