Hs02818631_cn

• Gene Symbol: CYP4V2
• Assay Reference Genome Location: Chr.4:186210415 on build GRCh38
• Cytoband: 4q35.2

Target Gene Details

• Entrez Gene ID: 285440
• Gene Name: cytochrome P450 family 4 subfamily V member 2
• Gene Aliases: BCD, CYP4AH1
• Location: Chr.4:186191520-186213463 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP4V2	NM_207352.3			NP_997235.3
	XM_005262935.3			XP_005262992.1
	XM_017008037.1			XP_016863526.1
	AK022114.1
	AK122600.1			BAC85487.1
	AK126473.1			BAC86562.1
	AK311390.1
	AY422002.1			AAR31180.1
	BC041839.1			AAH41839.1
	BC060857.1			AAH60857.1
	BX648537.1
	BX648730.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3894090	Chr.4:186011626 - 186212421 on Build GRCh38	Gain	TLR3 FLJ38576 FAM149A CYP4V2
nsv1028146	Chr.4:185582745 - 186417181 on Build GRCh38	Gain	F11-AS1 F11 SORBS2 TLR3 KLKB1 FLJ38576 FAM149A CYP4V2
nsv4644	Chr.4:186185600 - 186219291 on Build GRCh38	Insertion	KLKB1 FLJ38576 CYP4V2
nsv830172	Chr.4:186091611 - 186247270 on Build GRCh38	Loss	KLKB1 FLJ38576 FAM149A CYP4V2
nsv508340	Chr.4:186138019 - 186215804 on Build GRCh38	Deletion	KLKB1 FLJ38576 FAM149A CYP4V2
esv3603523	Chr.4:186176579 - 186214960 on Build GRCh38	Gain	FLJ38576 CYP4V2
nsv461864	Chr.4:186085652 - 186335850 on Build GRCh38	Gain	F11-AS1 F11 TLR3 KLKB1 FLJ38576 FAM149A CYP4V2
nsv596401	Chr.4:186151229 - 186445495 on Build GRCh38	Loss	F11-AS1 F11 KLKB1 FLJ38576 FAM149A CYP4V2
esv3603517	Chr.4:186008703 - 186213065 on Build GRCh38	Gain	TLR3 FLJ38576 FAM149A CYP4V2
dgv1052e214	Chr.4:186072002 - 186212619 on Build GRCh38	Gain	TLR3 FLJ38576 FAM149A CYP4V2
nsv4642	Chr.4:186164028 - 186215260 on Build GRCh38	Deletion	FLJ38576 FAM149A CYP4V2
esv3603525	Chr.4:186210472 - 186225457 on Build GRCh38	Loss	KLKB1 CYP4V2

More Information

Additional Information:

For this assay, SNP(s) [rs72646297] 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, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

retinoid metabolic process
visual perception
fatty acid omega-oxidation
sterol metabolic process
response to stimulus

Function(s)

monooxygenase activity
iron ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding