Hs04085947_cn

• Gene Symbol: CYB5R3
• Assay Reference Genome Location: Chr.22:42627871 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 Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYB5R3	NM_000398.6			NP_000389.1
	NM_001129819.2			NP_001123291.1
	NM_001171660.1			NP_001165131.1
	NM_001171661.1			NP_001165132.1
	NM_007326.4			NP_015565.1
	AF361370.1			AAL87744.1
	AJ010116.1			CAA09006.1
	AJ010117.1			CAA09007.1
	AJ010118.1			CAA09008.1
	AJ310899.1			CAC84523.1
	AJ310900.1			CAC84524.1
	AK124528.1			BAC85875.1
	AK302204.1
	BC004821.1			AAH04821.1
	BM564146.1
	BT009821.1			AAP88823.1
	BX334220.2
	BX366240.2
	CB118906.1
	CR456435.1			CAG30321.1
	DA268749.1
	DA966919.1
	DB029897.1
	M16461.1			AAA52306.1
	M16462.1			AAA52307.1
	Y09501.1			CAA70696.1

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	RNU12 CYB5R3 POLDIP3
esv2758839	Chr.22:42371195 - 42687300 on Build GRCh38	Gain+Loss	ATP5L2 NFAM1 SERHL RNU12 SERHL2 RRP7A CYB5R3 RRP7BP POLDIP3
nsv428391	Chr.22:42371295 - 42698202 on Build GRCh38	Gain	ATP5L2 NFAM1 SERHL A4GALT RNU12 SERHL2 RRP7A CYB5R3 RRP7BP POLDIP3

More Information

Additional Information:

For this assay, SNP(s) [rs112633188] 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 -

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