Hs00604380_cn

• Gene Symbol: NDUFA5
• Assay Reference Genome Location: Chr.7:123557823 on build GRCh38
• Cytoband: 7q31.32

Target Gene Details

• Entrez Gene ID: 4698
• Gene Name: NADH:ubiquinone oxidoreductase subunit A5
• Gene Aliases: B13, CI-13KD-B, CI-13kB, NUFM, UQOR13
• Location: Chr.7:123536997-123601651 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NDUFA5	NM_001282419.2	1	82	NP_001269348.1
	NM_001282422.2	1	82	NP_001269351.1
	NM_001291304.1			NP_001278233.1
	NM_005000.4	1	82	NP_004991.1
	NR_104168.2	1	82
	NR_104169.2	1	82
	NR_111925.1	1	82
	NR_111926.1
	AK022209.1			BAB13985.1
	AK315458.1
	AV713284.1
	BC000813.1			AAH00813.1
	BC020821.1			AAH20821.1
	BC070236.1			AAH70236.1
	BC070237.1			AAH70237.1
	BF671339.1
	BF790429.1
	BG400546.1
	BG611486.1
	BT006695.1			AAP35341.1
	U53468.1			AAB02224.1
	U64028.1			AAB37259.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831116	Chr.7:123447558 - 123619922 on Build GRCh38	Gain+Loss	NDUFA5 IQUB LOC102724555 ASB15
nsv524192	Chr.7:122763367 - 123578468 on Build GRCh38	Gain	NDUFA5 IQUB TAS2R16 CADPS2 ASB15 SLC13A1
nsv508479	Chr.7:123551811 - 123612091 on Build GRCh38	Deletion	NDUFA5 ASB15
esv3891198	Chr.7:121885430 - 123886905 on Build GRCh38	Gain	HYAL4 NDUFA5 IQUB TAS2R16 RNF148 PTPRZ1 RNF133 CADPS2 ASB15 FEZF1-AS1 HYALP1 AASS LOC102724555 LMOD2 FEZF1 WASL SLC13A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

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

Function(s)

NADH dehydrogenase (ubiquinone) activity