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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06092873_cn
          See other HAPLN1 CNV Assays ›
          Gene Symbol
          HAPLN1
          Assay Reference Genome
          Location

          Chr.5:83676051 on build GRCh38
          Cytoband
          5q14.3
          Assay ID Hs06092873_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          1404

          Gene Name:

          hyaluronan and proteoglycan link protein 1

          Gene Aliases:

          CRT1, CRTL1

          Location:

          Chr.5:83638198-83721210 on Build GRCh38

          Assay Gene Location:

          Within Intron 2
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          HAPLN1 NM_001884.3 NP_001875.1
          XM_017009051.1 XP_016864540.1
          XM_017009052.1 XP_016864541.1
          XM_017009053.1 XP_016864542.1
          AK313713.1
          U43328.1 AAA85216.1
          X17405.1 CAA35462.1
          X78076.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2730402 Chr.5:83675969 - 83676374 on Build GRCh38 Deletion HAPLN1
          nsv830367 Chr.5:83531833 - 83742562 on Build GRCh38 Gain+Loss LOC105379054 HAPLN1 VCAN
          nsv1015852 Chr.5:83404850 - 84499122 on Build GRCh38 Gain LOC105379054 EDIL3 HAPLN1 VCAN

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          extracellular matrix glycoprotein

          Gene Ontology Categories:

          Function(s) Process(es)

          skeletal system development
          cell adhesion
          central nervous system development
          extracellular matrix organization
          mitophagy in response to mitochondrial depolarization
          extracellular matrix structural constituent
          hyaluronic acid binding

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