Hs00509879_cn

• Gene Symbol: COX18
• Assay Reference Genome Location: Chr.4:73069335 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: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX18	NM_001297732.1			NP_001284661.1
	NM_001297733.1			NP_001284662.1
	NM_001300729.1			NP_001287658.1
	NM_173827.3			NP_776188.1
	XM_005265680.4			XP_005265737.1
	XM_011531878.2			XP_011530180.1
	XM_017008045.1			XP_016863534.1
	AK096310.2			BAC04758.1
	AM055750.1			CAJ20055.1
	AM055751.1			CAJ20056.1
	AM055752.1			CAJ20057.1
	AY957564.1			AAY35060.1
	AY957565.1			AAY35061.1
	BC071812.1			AAH71812.1
	BC101684.1			AAI01685.1
	BC143642.1
	DA385228.1
	DA674605.1

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

Additional Information:

For this assay, SNP(s) [rs78871269] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Non-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