Hs02837418_cn

• Gene Symbol: NDUFS3
• Assay Reference Genome Location: Chr.11:47584461 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 4722
• Gene Name: NADH:ubiquinone oxidoreductase core subunit S3
• Gene Aliases: CI-30
• Location: Chr.11:47579010-47584563 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS3	NM_004551.2	7	857	NP_004542.1
	AA477836.1	1	116
	AF067139.1	7	787	AAC27451.1
	AF100743.1	7	784	AAD40386.1
	AK223255.1	7	789	BAD96975.1
	AK313802.1
	AL135819.1	4	555	CAB63881.1
	BC000617.2	7	795	AAH00617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832142	Chr.11:47496403 - 47659758 on Build GRCh38	Loss	FAM180B MTCH2 NDUFS3 CELF1 PTPMT1 KBTBD4 C1QTNF4 AGBL2
nsv509405	Chr.11:47571038 - 47663104 on Build GRCh38	Insertion	FAM180B MTCH2 NDUFS3 PTPMT1 KBTBD4 C1QTNF4 AGBL2
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	FAM180B MTCH2 NDUFS3 CELF1 PTPMT1 KBTBD4 C1QTNF4
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	NDUFS3 CELF1 PTPMT1 KBTBD4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

dehydrogenase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
substantia nigra development
negative regulation of cell growth
mitochondrial respiratory chain complex I assembly
reactive oxygen species metabolic process
negative regulation of intrinsic apoptotic signaling pathway

Function(s)

NADH dehydrogenase activity
protein binding
NADH dehydrogenase (ubiquinone) activity
electron carrier activity