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          • Home
          • › Search Tool
          • › Search Results
          • › Hs05646110_cn
          See other CHM CNV Assays ›
          Gene Symbol
          CHM
          Assay Reference Genome
          Location

          Chr.X:85872066 on build GRCh38
          Cytoband
          Assay ID Hs05646110_cn
          Size
          Availability Made To Order
          Catalog # 4400291
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          • Genomic Map
          • Assay Details
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          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          1121

          Gene Name:

          CHM Rab escort protein

          Gene Aliases:

          DXS540, GGTA, HSD-32, REP-1, TCD

          Location:

          Chr.X:85861180-86047558 on Build GRCh38

          Assay Gene Location:

          Within Exon 18
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          CHM NM_000390.4 NP_000381.1
          NM_001320959.1 NP_001307888.1
          NM_001362517.1 NP_001349446.1
          NM_001362518.2 NP_001349447.1
          NM_001362519.1 NP_001349448.1
          XM_017029242.3 15 2247 XP_016884731.1
          XM_047441793.1 XP_047297749.1
          XM_047441794.1 XP_047297750.1
          AK095883.1 BAC04640.1
          AK291160.1 BAF83849.1
          AK299323.1 BAG61331.1
          AK312443.1
          M83773.1 AAA61032.1
          X57637.1 CAA40855.1
          X78121.1 CAA55011.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv4517047 Chr.X:85745994 - 85882995 on Build GRCh38 Duplication MIR1321 CHM
          nsv519786 Chr.X:85649751 - 85907957 on Build GRCh38 Gain MIR1321 MIR361 CHM
          esv2740276 Chr.X:85399134 - 86284474 on Build GRCh38 Deletion MIR1321 DACH2 MIR361 CHM

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          protein targeting to membrane
          intracellular protein transport
          small GTPase mediated signal transduction
          visual perception
          vesicle-mediated transport
          protein geranylgeranylation
          Rab geranylgeranyltransferase activity
          GDP-dissociation inhibitor activity
          GTPase activator activity
          protein binding
          small GTPase binding

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