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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06310907_cn
          See other EXT2 CNV Assays ›
          Gene Symbol
          EXT2
          Assay Reference Genome
          Location

          Chr.11:44178007 on build GRCh38
          Cytoband
          Assay ID Hs06310907_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          2132

          Gene Name:

          exostosin glycosyltransferase 2

          Gene Aliases:

          SOTV, SSMS

          Location:

          Chr.11:44095678-44251962 on Build GRCh38

          Assay Gene Location:

          Within Intron 13
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          EXT2 NM_000401.3 NP_000392.3
          NM_001178083.3 NP_001171554.1
          NM_001389628.1 NP_001376557.1
          NM_001389630.1 NP_001376559.1
          NM_207122.2 NP_997005.1
          XM_011519950.2 XP_011518252.1
          XM_047426528.1 XP_047282484.1
          XM_047426529.1 XP_047282485.1
          XM_047426530.1 XP_047282486.1
          AK296713.1 BAH12417.1
          AK312375.1 BAG35293.1
          BC010058.1 AAH10058.1
          BC068545.1 AAH68545.1
          BX648142.1
          U62740.1 AAB07008.1
          U64511.1 AAC50764.1
          U72263.1 AAB62718.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv832139 Chr.11:44063681 - 44277647 on Build GRCh38 Loss ACCS EXT2 ALX4
          nsv554183 Chr.11:44133885 - 44210885 on Build GRCh38 Gain EXT2

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          polysaccharide biosynthetic process
          ossification
          mesoderm formation
          chondrocyte differentiation
          glycosaminoglycan biosynthetic process
          protein glycosylation
          protein N-linked glycosylation
          regulation of blood pressure
          gene expression
          heparan sulfate proteoglycan biosynthetic process
          heparin biosynthetic process
          fluid transport
          vasodilation
          cellular response to fibroblast growth factor stimulus
          multicellular organismal water homeostasis
          sulfation
          sodium ion homeostasis
          heart contraction
          endochondral bone morphogenesis
          protein binding
          acetylglucosaminyltransferase activity
          glucuronosyltransferase activity
          transferase activity
          transferase activity, transferring glycosyl groups
          heparan sulfate N-acetylglucosaminyltransferase activity
          protein homodimerization activity
          metal ion binding
          protein heterodimerization activity
          glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
          N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

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