Hs04671715_cn

• Gene Symbol: NDUFS1
• Assay Reference Genome Location: Chr.2:206126164 on build GRCh38
• Cytoband: 2q33.3

Target Gene Details

• Entrez Gene ID: 4719
• Gene Name: NADH:ubiquinone oxidoreductase core subunit S1
• Gene Aliases: CI-75Kd, CI-75k, PRO1304
• Location: Chr.2:206121971-206159519 on Build GRCh38
• Assay Gene Location: Within Intron 19

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS1	NM_001199981.1			NP_001186910.1
	NM_001199982.1			NP_001186911.1
	NM_001199983.1			NP_001186912.1
	NM_001199984.1			NP_001186913.1
	NM_005006.6			NP_004997.4
	XM_017004188.1			XP_016859677.1
	AK098395.1
	AK295705.1
	AK295966.1
	AK295987.1
	AK298320.1
	AK300585.1
	AW074155.1
	BC012068.1			AAH12068.1
	BC022368.1			AAH22368.1
	BC030833.1			AAH30833.1
	X61100.1			CAA43412.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893538	Chr.2:206115621 - 206147759 on Build GRCh38	Loss	GCSHP3 NDUFS1
esv3893539	Chr.2:206123849 - 206133326 on Build GRCh38	Loss	NDUFS1

More Information

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

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

mitochondrial electron transport, NADH to ubiquinone
apoptotic mitochondrial changes
mitochondrial respiratory chain complex I assembly
cellular respiration
ATP metabolic process
regulation of mitochondrial membrane potential
reactive oxygen species metabolic process

Function(s)

protein binding
NADH dehydrogenase (ubiquinone) activity
electron carrier activity
metal ion binding
2 iron, 2 sulfur cluster binding
4 iron, 4 sulfur cluster binding