Hs00126590_cn

• Gene Symbol: CYB5R3
• Assay Reference Genome Location: Chr.22:42618906 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 1727
• Gene Name: cytochrome b5 reductase 3
• Gene Aliases: B5R, DIA1
• Location: Chr.22:42617840-42649399 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYB5R3	NM_000398.6	9	1857	NP_000389.1
	NM_001129819.2	9	2101	NP_001123291.1
	NM_001171660.1	9	1997	NP_001165131.1
	NM_001171661.1	10	1917	NP_001165132.1
	NM_007326.4	9	1856	NP_015565.1
	AK124528.1	6	3907	BAC85875.1
	BC004821.1	9	1801	AAH04821.1
	BP425383.1	1	186
	M16462.1	8	1692	AAA52307.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524028	Chr.22:42592111 - 42631818 on Build GRCh38	Loss	CYB5R3 POLDIP3 RNU12
esv2758839	Chr.22:42371195 - 42687300 on Build GRCh38	Gain+Loss	RRP7BP ATP5L2 CYB5R3 SERHL2 RRP7A NFAM1 SERHL POLDIP3 RNU12
nsv428391	Chr.22:42371295 - 42698202 on Build GRCh38	Gain	RRP7BP ATP5L2 CYB5R3 SERHL2 RRP7A NFAM1 SERHL A4GALT POLDIP3 RNU12

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

cholesterol biosynthetic process
blood circulation
L-ascorbic acid metabolic process
oxidation-reduction process

Function(s)

cytochrome-b5 reductase activity, acting on NAD(P)H
AMP binding
ADP binding
flavin adenine dinucleotide binding
NAD binding