Hs02715414_cn

• Gene Symbol: UQCC1
• Assay Reference Genome Location: Chr.20:35303047 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 Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UQCC1	NM_001184977.1	8	1763	NP_001171906.1
	NM_018244.4	10	1967	NP_060714.3
	NM_199487.2	9	1889	NP_955781.2
	XM_011528877.1	11	1914	XP_011527179.1
	XM_011528878.1	9	1776	XP_011527180.1
	XM_011528879.1	10	1818	XP_011527181.1
	XM_011528880.1	10	1876	XP_011527182.1
	XM_011528881.2	9	1898	XP_011527183.1
	XM_011528882.1	9	1752	XP_011527184.1
	XM_011528883.1	8	1678	XP_011527185.1
	XM_011528884.1	8	1629	XP_011527186.1
	AF173893.1	1	673	AAQ13640.1
	AK001712.1	10	1798	BAA91854.1
	AK022650.1	9	1720	BAB14156.1
	AK022742.1	10	1848	BAB14217.1
	AK093804.1	1	2208
	AK128252.1	1	3288
	AL122112.1	1	1424
	AY050659.1	10	1967	AAL13118.1
	BC119013.1	10	1833
	BC122862.1	10	1833
	BX537568.1	2	1416	CAD97785.1

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	FAM83C-AS1 FAM83C EIF6 MT1P3 UQCC1 MMP24-AS1 MMP24

More Information

• Set Membership: Intragenic, 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