Hs01392571_cn

• Gene Symbol: NDUFA6
• Assay Reference Genome Location: Chr.22:42086281 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 4700
• Gene Name: NADH:ubiquinone oxidoreductase subunit A6
• Gene Aliases: B14, CI-B14, LYRM6, NADHB14
• Location: Chr.22:42085526-42090884 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA6	NM_002490.3			NP_002481.2
	AF047182.1			AAC04267.1
	AK291874.1
	AK316562.1
	BC002772.1			AAH02772.1
	CR456529.1			CAG30415.1
	CR456714.1			CAG32995.1
	CR541997.1			CAG46794.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508737	Chr.22:42052007 - 42134336 on Build GRCh38	Insertion	NDUFA6-AS1 NDUFA6 LOC102723722 FAM109B WBP2NL CYP2D6 SNORD13P1 NAGA SMDT1
nsv834210	Chr.22:42057329 - 42209100 on Build GRCh38	Loss	NDUFA6-AS1 NDUFA6 CYP2D7 LOC102723722 FAM109B WBP2NL CYP2D6 SNORD13P1 NAGA SMDT1 TCF20

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
response to oxidative stress
mitochondrial respiratory chain complex I assembly

Function(s)

NADH dehydrogenase (ubiquinone) activity