Hs05992887_cn

• Gene Symbol: NDUFAF2
• Assay Reference Genome Location: Chr.5:60964983 on build GRCh38
• Cytoband: 5q12.1

Target Gene Details

• Entrez Gene ID: 91942
• Gene Name: NADH:ubiquinone oxidoreductase complex assembly factor 2
• Gene Aliases: B17.2L, MMTN, NDUFA12L, mimitin
• Location: Chr.5:60945129-61153037 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFAF2	NM_174889.4			NP_777549.1
	AB183433.1			BAD91205.1
	AF087990.1
	AK026051.1
	AK291296.1
	BC022869.1
	BC033965.1			AAH33965.1
	KU178834.1
	KU178835.1
	KU178836.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3605201	Chr.5:60946289 - 60983862 on Build GRCh38	Loss	NDUFAF2
nsv1161251	Chr.5:60943616 - 60988813 on Build GRCh38	Deletion	NDUFAF2 ERCC8
nsv462200	Chr.5:60840158 - 60971048 on Build GRCh38	Loss	NDUFAF2 ERCC8 ELOVL7
dgv9810n54	Chr.5:60820786 - 61017188 on Build GRCh38	Loss	NDUFAF2 ERCC8 ELOVL7
nsv520871	Chr.5:60845418 - 61024330 on Build GRCh38	Loss	NDUFAF2 ERCC8
nsv598313	Chr.5:60951988 - 61079085 on Build GRCh38	Loss	NDUFAF2
nsv598308	Chr.5:60833534 - 61033797 on Build GRCh38	Gain	NDUFAF2 ERCC8 ELOVL7

More Information

Additional Information:

For this assay, SNP(s) [rs148381062] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

respiratory electron transport chain
mitochondrial respiratory chain complex I assembly
cellular respiration
negative regulation of insulin secretion involved in cellular response to glucose stimulus
reactive oxygen species metabolic process

Function(s)

NADH dehydrogenase (ubiquinone) activity
electron carrier activity