Hs02763743_cn

• Gene Symbol: NDUFB8
• Assay Reference Genome Location: Chr.10:100529377 on build GRCh38
• Cytoband: 10q24.31

Target Gene Details

• Entrez Gene ID: 4714
• Gene Name: NADH:ubiquinone oxidoreductase subunit B8
• Gene Aliases: ASHI, CI-ASHI
• Location: Chr.10:100523729-100529923 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFB8	NM_001284367.1			NP_001271296.1
	NM_001284368.1			NP_001271297.1
	NM_005004.3			NP_004995.1
	AA782554.1
	AF044958.1			AAD05422.1
	AF077028.1			AAD27761.1
	AF115968.1			AAP97239.1
	AK289579.1
	AL080056.1			CAB45691.1
	BC000466.2			AAH00466.1
	BC019276.1			AAH19276.1
	BM008944.1
	BM686677.1
	CF127298.1
	CR533490.1			CAG38521.1
	DA428446.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3624363	Chr.10:100528312 - 100531647 on Build GRCh38	Loss	NDUFB8
nsv7519	Chr.10:100517567 - 100539513 on Build GRCh38	Insertion	SEC31B HIF1AN NDUFB8
nsv831963	Chr.10:100458231 - 100678922 on Build GRCh38	Loss	SEC31B WNT8B HIF1AN NDUFB8
nsv831962	Chr.10:100406551 - 100593251 on Build GRCh38	Gain	SEC31B WNT8B HIF1AN NDUFB8
esv2759779	Chr.10:100392093 - 100805979 on Build GRCh38	Gain+Loss	SEC31B WNT8B HIF1AN PAX2 NDUFB8

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
mitochondrial respiratory chain complex I assembly

Function(s)

NADH dehydrogenase (ubiquinone) activity