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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H-Invitational ID: HIT000000192 Accession number: AB007944 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 301 .. 301 C/G rs72707294 + 5'UTR 316 .. 316 G/A rs111851052 + 5'UTR 558 .. 558 G/A rs11802142 + CDS Synonymous[Arg74Arg] 747 .. 747 G/A rs61731084 + CDS Synonymous[Pro137Pro] 975 .. 975 T/G rs115005196 + CDS Nonsynonymous[Asp213Glu] 1424 .. 1424 T/C rs112282462 + CDS Nonsynonymous[Ile363Thr] 1597 .. 1597 T/C rs73045635 + 3'UTR 1678 .. 1678 A/G rs4456058 + 3'UTR 1685 .. 1685 G/A rs2025584 - 3'UTR 1988 .. 1988 T/- rs11299711 + 3'UTR 1990 .. 1990 T/- rs58197730 + 3'UTR 2047 .. 2047 C/A rs77755493 + 3'UTR 2114 .. 2114 A/G rs115929400 + 3'UTR 2140 .. 2140 T/C rs112020970 + 3'UTR 2227 ^ 2228 -/G rs34534731 + 3'UTR 2256 .. 2256 G/T rs9726948 + 3'UTR 2376 .. 2376 A/C rs116234027 + 3'UTR 2378 .. 2378 A/G rs16853612 + 3'UTR 2513 .. 2513 C/T rs9725887 + 3'UTR 2556 .. 2556 T/C rs9725888 + 3'UTR 2586 .. 2586 A/C rs4652352 + 3'UTR 2602 .. 2602 C/T rs72709441 + 3'UTR 2625 ^ 2626 -/C rs35222556 + 3'UTR 2736 .. 2736 G/T rs4652353 + 3'UTR 2744 .. 2744 C/T rs114807247 + 3'UTR 2746 .. 2746 T/C rs34488634 + 3'UTR 2810 .. 2810 C/T rs4652354 + 3'UTR 3198 .. 3198 T/G rs79542318 + 3'UTR 3267 .. 3267 G/C rs56006430 + 3'UTR 3297 .. 3297 C/A rs9730439 + 3'UTR 3825 .. 3825 G/T/C/A rs3766626 - 3'UTR 3834 ^ 3835 -/C rs35980145 + 3'UTR 3839 .. 3839 G/A rs3766625 - 3'UTR 4225 .. 4225 G/A rs16853619 + 3'UTR 4469 ^ 4470 -/G rs35292643 + 3'UTR 4486 .. 4486 G/C rs116023119 + 3'UTR 4588 .. 4588 G/A rs2018786 + 3'UTR 4692 .. 4692 A/T rs74837593 + 3'UTR 4858 .. 4858 C/T rs78609757 + 3'UTR 4985 .. 4985 C/T rs115052587 + 3'UTR 4991 .. 4991 A/G rs76363748 + 3'UTR 5009 .. 5009 A/G rs16853621 + 3'UTR 5089 .. 5089 A/T rs80245804 + 3'UTR 5291 .. 5291 A/G rs2147768 - 3'UTR 5641 .. 5641 G/C rs61823795 + 3'UTR 5643 .. 5643 C/T rs61823796 + 3'UTR 5653 ^ 5654 -/T rs71700716 + 3'UTR 5759 .. 5759 G/A rs9249 + 3'UTR 5768 .. 5768 A/C rs115640057 + 3'UTR 5772 .. 5772 A/G rs117216397 + 3'UTR 5779 .. 5779 A/C rs116166770 + 3'UTR 5786 .. 5786 C/A rs1220 + 3'UTR 5834 .. 5834 G/T rs11540488 - 3'UTR 5838 .. 5838 T/A rs15325 + 3'UTR  Microsatellite (Short Tandem Repeat, STR) Location Variation Strand 75..89 (ggc)5 +  Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD) No data available

Repeat  Type Start End Strand AluSx1 2727 3043 - AluSx 4330 4625 + Database links Human-Gene diversity Of Life-style related Diseases(H-GOLD);  Related H-InvDB links VaryGene;  Repeat Mask Viewer;