Hs00493604_cn

• Gene Symbol: COX17
• Assay Reference Genome Location: Chr.3:119660207 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:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COX17

Target Gene Details

• Entrez Gene ID: 64091
• Gene Name: popeye domain containing 2
• Gene Aliases: POP2
• Location: Chr.3:119642052-119660590 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POPDC2	NM_001308333.1	1	384	NP_001295262.1
	NM_022135.3	1	384	NP_071418.2
	XM_005247698.3	1	384	XP_005247755.1
	AF204173.1	1	367	AAG23406.1
	AK226022.1	2	449
	AK314819.1	1	385
	AK377174.1
	AK377176.1
	AK377177.1
	AK377178.1
	AK377179.1
	AK377180.1
	AK377181.1
	AK377182.1
	AK377183.1
	AK377184.1
	BC026911.2			AAH26911.1
	BC044929.1	1	384	AAH44929.1

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	POPDC2 COX17
esv3568977	Chr.3:119657752 - 119694492 on Build GRCh38	Loss	POPDC2 COX17

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of heart rate
biological_process

Function(s)

molecular_function