Hs04732685_cn

• Gene Symbol: COX17
• Assay Reference Genome Location: Chr.3:119673804 on build GRCh38
• Cytoband: 3q13.33

Target Gene Details

• Entrez Gene ID: 10063
• Gene Name: COX17, cytochrome c oxidase copper chaperone
• Gene Aliases: -
• Location: Chr.3:119659975-119677441 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX17	NM_005694.1			NP_005685.1
	BC010933.1			AAH10933.1
	BC105280.1			AAI05281.1
	L77701.1			AAA98114.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1014394	Chr.3:119641659 - 119693428 on Build GRCh38	Loss	COX17 POPDC2
esv3568977	Chr.3:119657752 - 119694492 on Build GRCh38	Loss	COX17 POPDC2
nsv591390	Chr.3:119665316 - 119740004 on Build GRCh38	Gain	COX17 MAATS1

More Information

Additional Information:

For this assay, SNP(s) [rs78840757] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
copper ion transport
brain development
heart development
mitochondrial respiratory chain complex IV assembly

Function(s)

copper ion binding
protein binding
copper chaperone activity