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H-Invitational ID: HIT000051353 Accession number: BC035234 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Similar to Ankyrin repeat domain-containing protein 53 isoform b.
 
 

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
337 .. 337 G/A rs200334183 + CDS Nonsynonymous[Ala46Thr]
399 .. 399 C/T rs11549805 + CDS Synonymous[His66His]
412 .. 412 G/A rs57527165 + CDS Nonsynonymous[Ala71Thr]
432 .. 432 G/C rs144533261 + CDS Synonymous[Pro77Pro]
434 .. 434 G/A rs148041218 + CDS Nonsynonymous[Arg78His]
460 .. 460 C/T rs150548571 + CDS Nonsynonymous[Arg87Cys]
461 .. 461 G/A rs143122611 + CDS Nonsynonymous[Arg87His]
474 .. 474 C/G rs113778540 + CDS Nonsynonymous[Ser91Arg]
489 .. 489 C/G rs201198305 + CDS Synonymous[Ser96Ser]
515 .. 515 C/G rs35096506 - CDS Nonsynonymous[Ala105Gly]
520 .. 520 G/A rs199966952 + CDS Nonsynonymous[Gly107Arg]
529 .. 529 T/G rs145335113 + CDS Nonsynonymous[Tyr110Asp]
532 .. 532 C/T rs142338899 + CDS AA-STOP[Gln111*]
546 .. 546 G/A rs147026593 + CDS Synonymous[Ala115Ala]
658 .. 658 A/C rs17853403 + CDS Nonsynonymous[Ile153Leu]
679 .. 679 G/A rs140379785 + CDS Nonsynonymous[Val160Ile]
722 .. 722 G/A rs150385053 + CDS Nonsynonymous[Ser174Asn]
741 .. 741 C/T rs143137377 + CDS Synonymous[Leu180Leu]
742 .. 742 G/A rs141661790 + CDS Nonsynonymous[Val181Ile]
744 .. 744 C/T rs202025375 + CDS Synonymous[Val181Val]
799 .. 799 A/T rs139132664 + CDS AA-STOP[Lys200*]
804 .. 804 C/T rs142005066 + CDS Synonymous[Gly201Gly]
805 .. 805 G/A rs149813455 + CDS Nonsynonymous[Ala202Thr]
817 .. 817 G/T rs201192206 + CDS Nonsynonymous[Ala206Ser]
818 .. 818 C/G rs147933653 + CDS Nonsynonymous[Ala206Gly]
839 .. 839 C/T rs147663052 + CDS Nonsynonymous[Thr213Met]
891 .. 891 G/A rs184969694 + CDS Synonymous[Leu230Leu]
929 .. 929 T/C rs36123544 - CDS Nonsynonymous[Met243Thr]
933 .. 933 C/T rs144749045 + CDS Synonymous[Gly244Gly]
944 .. 944 T/C rs201964284 + CDS Nonsynonymous[Ile248Thr]
970 .. 970 C/G rs138702951 + CDS Nonsynonymous[Arg257Gly]
971 .. 971 G/A rs117051248 + CDS Nonsynonymous[Arg257His]
982 .. 982 C/T rs201276599 + CDS Nonsynonymous[Arg261Trp]
990 .. 990 G/A rs74696086 + CDS Synonymous[Leu263Leu]
1028 .. 1028 C/T rs187992279 + CDS Nonsynonymous[Ala276Val]
1031 .. 1031 G/A rs202171427 + CDS Nonsynonymous[Arg277His]
1059 .. 1059 G/C rs148787552 + CDS Nonsynonymous[Lys286Asn]
1072 .. 1072 C/T rs180808804 + CDS Nonsynonymous[Leu291Phe]
1075 .. 1075 A/G rs149422719 + CDS Nonsynonymous[Met292Val]
1102 .. 1102 C/T rs62145100 + CDS AA-STOP[Gln301*]
1193 .. 1193 A/G rs145634727 + CDS Nonsynonymous[Asp331Gly]
1242 .. 1242 A/C rs61751874 + 3'UTR
1279 .. 1279 C/T rs182279308 + 3'UTR
1300 .. 1300 C/T rs61750014 + 3'UTR
1306 .. 1306 G/A rs3796098 + 3'UTR
1321 .. 1321 G/C rs200216429 + 3'UTR
1326 .. 1326 C/T rs201236100 + 3'UTR
1374 .. 1374 G/A/T rs11688921 + 3'UTR
1389 .. 1389 A/G rs192467128 + 3'UTR
1480 .. 1480 G/A/C rs3796099 + 3'UTR
1620 .. 1620 A/T rs3796100 + 3'UTR
1621 .. 1621 C/T rs61732224 + 3'UTR
1779 .. 1779 G/A rs75182953 + 3'UTR
1784 .. 1784 C/T rs56204570 + 3'UTR
1791 .. 1791 T/G rs61735674 + 3'UTR
1827 .. 1827 T/C rs11673798 + 3'UTR
1871 .. 1871 C/A rs61732288 + 3'UTR
1872 .. 1872 G/A rs141581897 + 3'UTR
1896 .. 1896 T/C rs61732279 + 3'UTR
1923 .. 1923 T/G rs10460571 + 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
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 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