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H-Invitational ID: HIT000013816 Accession number: AK057202 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: U3 small nucleolar RNA-associated protein 6 homolog; Hepatocellular carcinoma-associated antigen 66; Multiple hat domains protein;
 
 

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
12 .. 12 G/C rs187992682 - 5'UTR
21 .. 21 C/T/G rs2074101 - 5'UTR
30 .. 30 C/T rs111907415 - 5'UTR
87 .. 87 G/A rs78272471 - CDS Synonymous[Leu19Leu]
95 .. 95 T/C rs199526310 - CDS Nonsynonymous[Ile22Thr]
101 .. 101 T/C rs113076339 - CDS Nonsynonymous[Leu24Pro]
124 .. 124 G/T rs76761783 - CDS Nonsynonymous[Ala32Ser]
134 .. 134 A/G rs16967042 - CDS Nonsynonymous[Lys35Arg]
144 .. 144 C/G rs139107049 - CDS Synonymous[Ser38Ser]
172 .. 172 A/G rs111969582 - CDS Nonsynonymous[Thr48Ala]
175 .. 175 C/A rs146195806 - CDS Nonsynonymous[Leu49Ile]
213 .. 213 A/G rs141634580 - CDS Synonymous[Glu61Glu]
236 .. 236 G/A rs3760454 + CDS Nonsynonymous[Arg69Gln]
238 .. 238 A/G rs113806075 - CDS Nonsynonymous[Arg70Gly]
250 .. 250 C/T rs201848137 - CDS Nonsynonymous[Arg74Cys]
292 .. 292 A/C rs202236562 - CDS Nonsynonymous[Ile88Leu]
345 .. 345 C/T rs144023831 - CDS Synonymous[Asp105Asp]
404 .. 404 G/A rs149514713 - CDS Nonsynonymous[Arg125Gln]
430 .. 430 T/G rs34859443 + CDS Nonsynonymous[Leu134Val]
454 .. 454 G/T rs201757154 - CDS Nonsynonymous[Ala142Ser]
461 .. 461 G/A rs201254967 - CDS AA-STOP[Trp144*]
493 .. 493 C/G rs139868836 - CDS Nonsynonymous[Arg155Gly]
511 .. 511 G/A rs188357533 - CDS Nonsynonymous[Ala161Thr]
529 .. 529 C/T rs141480679 - CDS Nonsynonymous[Arg167Cys]
532 .. 532 G/T rs199527189 - CDS Nonsynonymous[Ala168Ser]
538 .. 538 C/T rs138291704 - CDS Nonsynonymous[Arg170Cys]
539 .. 539 G/A rs200732643 - CDS Nonsynonymous[Arg170His]
575 .. 575 A/T rs147043256 - CDS Nonsynonymous[Tyr182Phe]
592 .. 592 A/G rs201293446 - CDS Nonsynonymous[Met188Val]
603 .. 603 A/G rs115268338 - CDS Synonymous[Glu191Glu]
620 .. 620 A/C rs151277876 - CDS Nonsynonymous[Lys197Thr]
621 .. 621 G/C rs142388164 - CDS Nonsynonymous[Lys197Asn]
623 .. 623 A/C rs200394185 - CDS Nonsynonymous[Glu198Ala]
688 .. 688 G/A rs113683685 - CDS Nonsynonymous[Glu220Lys]
761 .. 761 C/T rs146623373 - CDS Nonsynonymous[Ser244Leu]
762 .. 762 G/A rs138959717 - CDS Synonymous[Ser244Ser]
791 .. 791 A/G rs144499286 - CDS Nonsynonymous[Asp254Gly]
800 .. 800 A/G rs201823042 - CDS Nonsynonymous[Lys257Arg]
876 .. 876 A/T rs147328342 - CDS Nonsynonymous[Leu282Phe]
890 .. 890 A/G rs200620009 - CDS Nonsynonymous[Gln287Arg]
919 .. 919 G/A rs201014530 - CDS Nonsynonymous[Ala297Thr]
941 .. 941 G/A rs201792460 - CDS Nonsynonymous[Arg304Gln]
951 .. 951 G/C rs139786553 - CDS Nonsynonymous[Glu307Asp]
965 .. 965 T/C rs146176883 - CDS Nonsynonymous[Val312Ala]
980 .. 980 T/G rs149676036 - CDS Nonsynonymous[Val317Gly]
993 .. 993 A/C rs139498305 - CDS Synonymous[Pro321Pro]
1043 .. 1043 C/G rs185388825 - CDS Nonsynonymous[Thr338Ser]
1072 .. 1072 G/C rs79809527 - CDS Nonsynonymous[Gly348Arg]
1105 .. 1105 A/G rs188945229 - CDS Nonsynonymous[Arg359Gly]
1251 .. 1251 G/C rs199600351 - CDS Nonsynonymous[Gln407His]
1265 .. 1265 T/G rs77929397 - CDS Nonsynonymous[Val412Gly]
1283 ^ 1284 -/T rs35553636 - CDS
1313 .. 1313 C/G/A rs150542174 - CDS
1443 .. 1443 C/T rs199682205 - CDS Synonymous[Ala471Ala]
1541 .. 1541 G/A rs141710819 - CDS Nonsynonymous[Arg504Gln]
1656 .. 1656 C/T rs138066981 - CDS Synonymous[Ser542Ser]
1661 .. 1661 A/G rs147417068 - CDS Nonsynonymous[Asp544Gly]
1715 .. 1715 G/A rs200802612 - CDS Nonsynonymous[Arg562Lys]
1727 .. 1727 G/A rs201762567 - CDS Nonsynonymous[Cys566Tyr]
1744 .. 1744 C/T rs199655991 - CDS AA-STOP[Arg572*]
1801 .. 1801 A/G rs142869504 - CDS Nonsynonymous[Met591Val]
1854 .. 1854 T/C rs16967028 - 3'UTR
1991 .. 1991 T/G rs146353822 - 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