Hs02916212_cn

• Gene Symbol: COX18
• Assay Reference Genome Location: Chr.4:73057542 on build GRCh38
• Cytoband: 4q13.3

Target Gene Details

• Entrez Gene ID: 285521
• Gene Name: COX18, cytochrome c oxidase assembly factor
• Gene Aliases: COX18HS
• Location: Chr.4:73054696-73069759 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX18	NM_001297732.1	6	1687	NP_001284661.1
	NM_001297733.1	6	1688	NP_001284662.1
	NM_001300729.1	5	1583	NP_001287658.1
	NM_173827.3	6	1684	NP_776188.1
	XM_005265680.4	6	1691	XP_005265737.1
	XM_011531878.2	6	1658	XP_011530180.1
	XM_017008045.1	6	1688	XP_016863534.1
	AK092641.1	1	571
	AK096310.2	6	1630	BAC04758.1
	AY957564.1			AAY35060.1
	AY957565.1			AAY35061.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3600985	Chr.4:72952867 - 73192514 on Build GRCh38	Gain	COX18 ANKRD17
nsv523169	Chr.4:72886525 - 73255193 on Build GRCh38	Gain	COX18 ANKRD17
esv3600984	Chr.4:72944988 - 73087723 on Build GRCh38	Gain	COX18 ANKRD17

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

respiratory chain complex IV assembly
protein transport
protein insertion into mitochondrial membrane

Function(s)

protein transporter activity