Hs02123183_cn

• Gene Symbol: COA3
• Assay Reference Genome Location: Chr.17:42798556 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 28958
• Gene Name: cytochrome c oxidase assembly factor 3
• Gene Aliases: CCDC56, HSPC009, MITRAC12
• Location: Chr.17:42797618-42798725 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COA3	NM_001040431.2	1	170	NP_001035521.1
	AF070665.1	1	145	AAD20971.1
	AK225611.1	1	149
	AK290863.1	1	136
	AK295023.1	1	135
	AL524532.3	1	170
	AU122748.1	1	136
	BC002698.2	1	131	AAH02698.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833450	Chr.17:42660985 - 42825144 on Build GRCh38	Loss	COA3 WNK4 CNTD1 RAMP2-AS1 TUBG2 BECN1 MIR6781 RAMP2 CCR10 VPS25 CNTNAP1 MIR6780A PLEKHH3 EZH1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

mitochondrial respiratory chain complex IV assembly
positive regulation of mitochondrial translation

Function(s)

protein binding