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H-Invitational ID: HIT000053040 Accession number: BC046441 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Glycosaminoglycan xylosylkinase; EC=2.7.1.-; Protein FAM20B; Xylose kinase;
 
 

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
126 .. 126 C/G rs72707294 + 5'UTR
141 .. 141 G/A rs111851052 + 5'UTR
237 .. 237 G/A rs137869702 + CDS Nonsynonymous[Asp26Asn]
265 .. 265 G/A rs146067221 + CDS Nonsynonymous[Arg35Gln]
280 .. 280 C/A rs200886195 + CDS Nonsynonymous[Ala40Asp]
289 .. 289 G/A rs142026121 + CDS Nonsynonymous[Arg43Gln]
383 .. 383 G/A rs11802142 + CDS Synonymous[Arg74Arg]
402 .. 402 A/G rs141876206 + CDS Nonsynonymous[Thr81Ala]
462 .. 462 G/A rs146097391 + CDS Nonsynonymous[Val101Met]
500 .. 500 A/G rs200608685 + CDS Nonsynonymous[Ile113Met]
552 .. 552 C/G rs146393427 + CDS Nonsynonymous[His131Asp]
571 .. 571 C/T rs150031972 + CDS Nonsynonymous[Pro137Leu]
572 .. 572 G/A rs61731084 + CDS Synonymous[Pro137Pro]
585 .. 585 G/T rs202188103 + CDS Nonsynonymous[Asp142Tyr]
674 .. 674 T/C rs145367987 + CDS Synonymous[Asn171Asn]
678 .. 678 C/T rs201200050 + CDS Nonsynonymous[Arg173Trp]
722 .. 722 C/T rs200538395 + CDS Synonymous[Thr187Thr]
725 .. 725 C/G rs199594990 + CDS Nonsynonymous[Phe188Leu]
800 .. 800 T/G rs115005196 + CDS Nonsynonymous[Asp213Glu]
810 .. 810 A/T rs142541786 + CDS Nonsynonymous[Met217Leu]
821 .. 821 T/C rs137932051 + CDS Synonymous[Ser220Ser]
900 .. 900 T/C rs145807542 + CDS Synonymous[Leu247Leu]
939 .. 939 G/A rs201538828 + CDS Nonsynonymous[Val260Met]
969 .. 969 C/T rs140406781 + CDS Nonsynonymous[Pro270Ser]
971 .. 971 G/A rs150381478 + CDS Synonymous[Pro270Pro]
974 .. 974 C/A rs143013339 + CDS Synonymous[Arg271Arg]
1039 .. 1039 A/G rs200686180 + CDS Nonsynonymous[Tyr293Cys]
1066 .. 1066 C/T rs138594430 + CDS Nonsynonymous[Ala302Val]
1067 .. 1067 T/A rs149513260 + CDS Synonymous[Ala302Ala]
1090 .. 1090 A/G rs199656793 + CDS Nonsynonymous[Asn310Ser]
1168 .. 1168 T/C rs141949932 + CDS Nonsynonymous[Val336Ala]
1194 .. 1194 C/G rs201637462 + CDS Nonsynonymous[Leu345Val]
1213 .. 1213 A/T rs201521365 + CDS Nonsynonymous[Lys351Met]
1218 .. 1218 G/A rs200936773 + CDS Nonsynonymous[Ala353Thr]
1240 .. 1240 A/G rs146312839 + CDS Nonsynonymous[His360Arg]
1249 .. 1249 T/C rs112282462 + CDS Nonsynonymous[Ile363Thr]
1252 .. 1252 C/G/T rs144871480 + CDS
1280 .. 1280 C/T rs202186782 + CDS Synonymous[Asp373Asp]
1283 .. 1283 C/T rs146459916 + CDS Synonymous[Ala374Ala]
1284 .. 1284 G/A rs200757870 + CDS Nonsynonymous[Val375Met]
1292 .. 1292 G/A rs144178097 + CDS Synonymous[Gln377Gln]
1422 .. 1422 T/C rs73045635 + 3'UTR
1503 .. 1503 G/A rs4456058 + 3'UTR
1510 .. 1510 A/G rs2025584 - 3'UTR
1764 .. 1764 C/T rs140751029 + 3'UTR
1765 .. 1765 G/A rs150142585 + 3'UTR
1805 .. 1805 T/- rs11299711 + 3'UTR
1821 .. 1821 G/C rs138582417 + 3'UTR
1864 .. 1864 C/T rs185893563 + 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