H-InvDB_8.3 released on March 26, 2013. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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Locus view Protein view G-integra DiseaseInfo Viewer H-ANGEL Evola PPI view Gene Family/Group Hyperlink MS

H-Invitational ID: HIT000053040 Accession number: BC046441 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Glycosaminoglycan xylosylkinase precursor.

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Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information

Single Nucleotide Polymorphism (SNP) and indel  Location Variation dbSNP ID Strand CDS/UTR Translation 126 .. 126 C/G rs72707294 + 5'UTR 141 .. 141 G/A rs111851052 + 5'UTR 383 .. 383 G/A rs11802142 + CDS Synonymous[Arg74Arg] 572 .. 572 G/A rs61731084 + CDS Synonymous[Pro137Pro] 800 .. 800 T/G rs115005196 + CDS Nonsynonymous[Asp213Glu] 1249 .. 1249 T/C rs112282462 + CDS Nonsynonymous[Ile363Thr] 1422 .. 1422 T/C rs73045635 + 3'UTR 1503 .. 1503 G/A rs4456058 + 3'UTR 1510 .. 1510 A/G rs2025584 - 3'UTR 1805 .. 1805 T/- rs112537332 + 3'UTR 1814 .. 1814 T/- rs11299711 + 3'UTR 1816 .. 1816 T/- rs58197730 + 3'UTR 1873 .. 1873 C/A rs77755493 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) No data available  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  No data available Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;