Hs07137680_cn

• Gene Symbol: UQCRFS1
• Assay Reference Genome Location: Chr.19:29209661 on build GRCh38
• Cytoband: 19q12

Target Gene Details

• Entrez Gene ID: 7386
• Gene Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
• Gene Aliases: RIP1, RIS1, RISP, UQCR5
• Location: Chr.19:29207260-29213229 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UQCRFS1	NM_006003.2			NP_005994.2
	AK291134.1
	BC000649.1			AAH00649.1
	BC010035.2			AAH10035.1
	BC067832.1			AAH67832.1
	BF210184.1
	BF979273.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1061604	Chr.19:28373028 - 29773397 on Build GRCh38	Loss	LOC101927210 VSTM2B POP4 LOC102724908 LOC284395 PLEKHF1 C19orf12 UQCRFS1 LINC00906 LINC01532 LOC102724958 LOC100420587
dgv1034e212	Chr.19:29198360 - 29215107 on Build GRCh38	Loss	UQCRFS1
nsv2452	Chr.19:29198755 - 29234024 on Build GRCh38	Insertion	UQCRFS1
nsv579240	Chr.19:29185365 - 29401390 on Build GRCh38	Gain	LOC284395 UQCRFS1

More Information

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

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, ubiquinol to cytochrome c
response to hormone
response to drug
response to antibiotic
hydrogen ion transmembrane transport

Function(s)

ubiquinol-cytochrome-c reductase activity
protein complex binding
metal ion binding
2 iron, 2 sulfur cluster binding