Hs07184214_cn

• Gene Symbol: UQCC1
• Assay Reference Genome Location: Chr.20:35312303 on build GRCh38
• Cytoband: 20q11.22

Target Gene Details

• Entrez Gene ID: 55245
• Gene Name: ubiquinol-cytochrome c reductase complex assembly factor 1
• Gene Aliases: BFZB, C20orf44, CBP3, UQCC
• Location: Chr.20:35302566-35412142 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UQCC1	NM_001184977.1			NP_001171906.1
	NM_018244.4			NP_060714.3
	NM_199487.2			NP_955781.2
	XM_011528877.1			XP_011527179.1
	XM_011528878.1			XP_011527180.1
	XM_011528879.1			XP_011527181.1
	XM_011528880.1			XP_011527182.1
	XM_011528881.2			XP_011527183.1
	XM_011528882.1			XP_011527184.1
	XM_011528883.1			XP_011527185.1
	XM_011528884.1			XP_011527186.1
	AK001712.1			BAA91854.1
	AK022650.1			BAB14156.1
	AK022742.1			BAB14217.1
	AK225281.1
	AK225557.1
	AK293149.1
	AK293516.1
	AK295379.1
	AK300130.1
	AK302133.1
	AY050659.1			AAL13118.1
	AY050660.1			AAL13119.1
	BC105791.1			AAI05792.1
	BC119013.1
	BC122862.1
	BM919736.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1059168	Chr.20:35217473 - 35319358 on Build GRCh38	Loss	UQCC1 MMP24 MMP24-AS1 FAM83C-AS1 MT1P3 FAM83C EIF6
nsv3363	Chr.20:35309606 - 35340730 on Build GRCh38	Insertion	UQCC1

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

mitochondrial respiratory chain complex III assembly
positive regulation of mitochondrial translation

Function(s)

protein binding