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          • Home
          • › Search Tool
          • › Search Results
          • › Hs06557177_cn
          See other UQCRH CNV Assays ›
          Gene Symbol
          UQCRH
          Assay Reference Genome
          Location

          Chr.1:46306264 on build GRCh38
          Cytoband
          Assay ID Hs06557177_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          7388

          Gene Name:

          ubiquinol-cytochrome c reductase hinge protein

          Gene Aliases:

          MC3DN11, QCR6, UQCR8

          Location:

          Chr.1:46303698-46316776 on Build GRCh38

          Assay Gene Location:

          Within Intron 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          UQCRH NM_001297565.2 NP_001284494.1
          NM_001297566.2 NP_001284495.1
          NM_006004.4 NP_005995.2
          AA526171.1
          AK311967.1 BAG34906.1
          BC001426.2 AAH01426.1
          BC001934.1 AAH01934.1
          BC015177.1 AAH15177.1
          BC093060.1 AAH93060.1
          BC107703.1 AAI07704.1
          BG472687.1
          BP366403.1
          BT007070.1 AAP35733.1
          M36647.1 AAA36317.1
          Y00764.1 CAA68733.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv829748 Chr.1:46258836 - 46410450 on Build GRCh38 Loss RAD54L NSUN4 UQCRH FAAH LRRC41
          nsv470711 Chr.1:46194623 - 46344858 on Build GRCh38 Gain POMGNT1 LURAP1 RAD54L NSUN4 UQCRH LRRC41 TSPAN1
          esv2761743 Chr.1:45874186 - 46561071 on Build GRCh38 Gain MKNK1 UQCRH DMBX1 MAST2 LOC101929626 LRRC41 FAAHP1 PIK3R3 TSPAN1 POMGNT1 LINC01398 LURAP1 RAD54L NSUN4 MKNK1-AS1 TMEM275 FAAH P3R3URF-PIK3R3 KNCN P3R3URF
          nsv6333828 Chr.1:46281948 - 46318675 on Build GRCh38 Duplication UQCRH LRRC41

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          oxidative phosphorylation
          mitochondrial electron transport, ubiquinol to cytochrome c
          aerobic respiration
          cellular respiration
          hydrogen ion transmembrane transport
          protein binding
          ubiquinol-cytochrome-c reductase activity

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