Hs02723719_cn

• Gene Symbol: NDUFS1
• Assay Reference Genome Location: Chr.2:206123281 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 Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS1	NM_001199981.1	18	3163	NP_001186910.1
	NM_001199982.1	16	2994	NP_001186911.1
	NM_001199983.1	18	3179	NP_001186912.1
	NM_001199984.1	19	3191	NP_001186913.1
	NM_005006.6	19	3271	NP_004997.4
	XM_017004188.1	19	3230	XP_016859677.1
	AA150435.1	1	203
	BC030833.1	19	3175	AAH30833.1
	CA419316.1	1	189

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	NDUFS1 GCSHP3

More Information

• Set Membership: Intragenic, 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