Hs07485597_cn

• Gene Symbol: COQ8A
• Assay Reference Genome Location: Chr.1:226975753 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 56997
• Gene Name: coenzyme Q8A
• Gene Aliases: ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
• Location: Chr.1:226939339-226987545 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COQ8A	NM_020247.4			NP_064632.2
	XM_005273201.1			XP_005273258.1
	XM_011544238.1			XP_011542540.1
	XM_011544239.2			XP_011542541.1
	XM_011544240.2			XP_011542542.1
	XM_011544241.2			XP_011542543.1
	XM_017001852.1			XP_016857341.1
	AB073905.1			BAB91363.1
	AK074693.1			BAC11143.1
	AK090494.1
	AK092784.1
	AK126200.1
	AK293571.1
	AK297735.1
	AK300537.1
	AK301012.1
	BC005171.2			AAH05171.2
	BC129930.1
	BX648860.1			CAH56132.1

Target Gene Details

• Entrez Gene ID: 105379282
• Gene Name: glucose-dependent insulinotropic receptor-like
• Gene Aliases: -
• Location: Chr.1:226971536-226977439 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC105379282	XM_011544346.2	2	3834	XP_011542648.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952131	Chr.1:226973700 - 226988299 on Build GRCh38	Deletion	LOC105379282 COQ8A
nsv520923	Chr.1:226939917 - 226991247 on Build GRCh38	Loss	CDC42BPA LOC105379282 COQ8A

More Information

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

Gene Ontology Categories:

Process(es)

ubiquinone biosynthetic process
phosphorylation

Function(s)

protein binding
ATP binding
kinase activity
ADP binding