Hs02644573_cn

• Gene Symbol: NDUFB3
• Assay Reference Genome Location: Chr.2:201085753 on build GRCh38
• Cytoband: 2q33.1

Target Gene Details

• Entrez Gene ID: 4709
• Gene Name: NADH:ubiquinone oxidoreductase subunit B3
• Gene Aliases: B12, CI-B12
• Location: Chr.2:201071739-201085750 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFB3	NM_001257102.1			NP_001244031.1
	NM_002491.2			NP_002482.1
	XM_011511230.2			XP_011509532.1
	XM_017004186.1			XP_016859675.1
	AF035839.1			AAC15590.1
	AF047183.1			AAC04268.1
	BC018183.1			AAH18183.1
	BU188560.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv584160	Chr.2:201039216 - 201298760 on Build GRCh38	Loss	CFLAR-AS1 CASP10 CASP8 CFLAR RPL17P10 ALS2CR12 FAM126B NDUFB3

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
mitochondrial respiratory chain complex I assembly

Function(s)

NADH dehydrogenase (ubiquinone) activity