Hs07016988_cn

• Gene Symbol: COX6A1
• Assay Reference Genome Location: Chr.12:120440318 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 1337
• Gene Name: cytochrome c oxidase subunit 6A1
• Gene Aliases: CMTRID, COX6A, COX6AL
• Location: Chr.12:120438090-120440742 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX6A1	NM_004373.3			NP_004364.2
	AK312009.1
	BP378295.1
	HE647860.1
	X15341.1			CAA33392.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3630923	Chr.12:120439963 - 120450931 on Build GRCh38	Gain	TRIAP1 GATC COX6A1
nsv509482	Chr.12:120435117 - 120495113 on Build GRCh38	Insertion	DYNLL1 TRIAP1 SRSF9 GATC NRAV COX6A1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
mitochondrial electron transport, cytochrome c to oxygen
hydrogen ion transmembrane transport

Function(s)

cytochrome-c oxidase activity