Hs04540791_cn

• Gene Symbol: UQCRH
• Assay Reference Genome Location: Chr.1:46306770 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 7388
• Gene Name: ubiquinol-cytochrome c reductase hinge protein
• Gene Aliases: QCR6, UQCR8
• Location: Chr.1:46303613-46316777 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UQCRH	NM_001297565.1			NP_001284494.1
	NM_001297566.1			NP_001284495.1
	NM_006004.3			NP_005995.2
	AA526171.1
	AK311967.1
	BC001426.2			AAH01426.1
	BC001934.1			AAH01934.1
	BC015177.1			AAH15177.1
	BC093060.1			AAH93060.1
	BC107703.1			AAI07704.1
	BG472687.1
	BP366403.1
	BT007070.1			AAP35733.1
	M36647.1			AAA36317.1
	Y00764.1			CAA68733.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829748	Chr.1:46258836 - 46410450 on Build GRCh38	Loss	FAAH RAD54L UQCRH NSUN4 LRRC41
nsv470711	Chr.1:46194623 - 46344858 on Build GRCh38	Gain	POMGNT1 TSPAN1 RAD54L UQCRH LURAP1 NSUN4 LRRC41
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	FAAH POMGNT1 TSPAN1 MAST2 LINC01398 PIK3R3 LOC101929626 FAAHP1 DMBX1 MKNK1-AS1 MKNK1 RAD54L UQCRH KNCN LURAP1 NSUN4 LRRC41

More Information

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

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

oxidative phosphorylation
mitochondrial electron transport, ubiquinol to cytochrome c
aerobic respiration
oxidation-reduction process
hydrogen ion transmembrane transport

Function(s)

protein binding
ubiquinol-cytochrome-c reductase activity