Hs03354227_cn

• Gene Symbol: NDUFS2
• Assay Reference Genome Location: Chr.1:161200184 on build GRCh38
• Cytoband: 1q23.3

Target Gene Details

• Entrez Gene ID: 4720
• Gene Name: NADH:ubiquinone oxidoreductase core subunit S2
• Gene Aliases: CI-49
• Location: Chr.1:161197377-161214395 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFS2	NM_004550.4			NP_004541.1
	XM_005245208.2			XP_005245265.1
	BC008868.2			AAH08868.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv32799	Chr.1:161192048 - 161201730 on Build GRCh38	Gain	NDUFS2 ADAMTS4

More Information

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

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

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

Function(s)

NADH dehydrogenase activity
protein binding
NADH dehydrogenase (ubiquinone) activity
electron carrier activity
ubiquitin protein ligase binding
metal ion binding
quinone binding
NAD binding
4 iron, 4 sulfur cluster binding