Hs03073023_cn

• Gene Symbol: COX18
• Assay Reference Genome Location: Chr.4:73055169 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	4060	NP_001284661.1
	NM_001297733.1	6	4061	NP_001284662.1
	NM_001300729.1	5	3956	NP_001287658.1
	NM_173827.3	6	4057	NP_776188.1
	AY957564.1	7	2939	AAY35060.1

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	ANKRD17 COX18
nsv523169	Chr.4:72886525 - 73255193 on Build GRCh38	Gain	ANKRD17 COX18
esv3600984	Chr.4:72944988 - 73087723 on Build GRCh38	Gain	ANKRD17 COX18

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