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          • Home
          • › Search Tool
          • › Search Results
          • › Hs03042184_cn
          See other ATP23 CNV Assays ›
          Gene Symbol
          ATP23
          Assay Reference Genome
          Location

          Chr.12:57957219 on build GRCh38
          Cytoband
          Assay ID Hs03042184_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:

          91419

          Gene Name:

          ATP23 metallopeptidase and ATP synthase assembly factor homolog

          Gene Aliases:

          KUB3, XRCC6BP1

          Location:

          Chr.12:57941567-57959148 on Build GRCh38

          Assay Gene Location:

          Within Exon 1
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ATP23 NM_001320408.2 6 1245 NP_001307337.1
          NM_001320409.2 5 1159 NP_001307338.1
          NM_001320410.2 7 1376 NP_001307339.1
          NM_033276.4 6 1205 NP_150592.1
          XM_011538976.3 5 943 XP_011537278.1
          XM_017020206.2 6 1096 XP_016875695.1
          AF078164.2 AAD31085.1
          BC012776.2 AAH12776.3
          BC115381.1 AAI15382.1
          BC115382.1 AAI15383.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv559046 Chr.12:57768302 - 58084815 on Build GRCh38 Gain LOC101927608 TSFM LOC283387 GIHCG EEF1AKMT3 MIR26A2 ATP23 CTDSP2-AS1 CTDSP2 METTL1 AVIL
          nsv6466759 Chr.12:57924023 - 58187129 on Build GRCh38 Deletion GIHCG ATP23 LINC02403
          nsv975500 Chr.12:57957269 - 57968890 on Build GRCh38 Duplication ATP23
          nsv523853 Chr.12:57956848 - 57992939 on Build GRCh38 Gain ATP23

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          double-strand break repair via nonhomologous end joining
          proteolysis
          mitochondrial proton-transporting ATP synthase complex assembly
          mitochondrial protein processing
          metalloendopeptidase activity
          DNA-dependent protein kinase activity
          protein binding
          peptidase activity
          metallopeptidase activity
          hydrolase activity
          metal ion binding

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