Hs05261393_cn

• Gene Symbol: CYP2R1
• Assay Reference Genome Location: Chr.11:14894566 on build GRCh38
• Cytoband: 11p15.2

Target Gene Details

• Entrez Gene ID: 120227
• Gene Name: cytochrome P450 family 2 subfamily R member 1
• Gene Aliases: -
• Location: Chr.11:14877436-14898913 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP2R1	XM_011519898.2	1	4348	XP_011518200.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3625429	Chr.11:14852130 - 14898409 on Build GRCh38	Gain	PDE3B LOC107984314 CYP2R1
esv3891931	Chr.11:14839971 - 14950061 on Build GRCh38	Loss	PDE3B LOC107984314 CYP2R1
nsv832071	Chr.11:14854876 - 15027624 on Build GRCh38	Loss	PDE3B LOC107984314 CYP2R1 CALCA
esv3578250	Chr.11:14350967 - 14976647 on Build GRCh38	Gain	COPB1 PDE3B LOC107984314 CYP2R1 RRAS2 PSMA1 CALCA

More Information

Additional Information:

For this assay, SNP(s) [rs115156120,rs116426803] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase, oxygenase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

vitamin metabolic process
response to cesium ion
response to ionizing radiation
calcitriol biosynthetic process from calciol
vitamin D metabolic process
oxidation-reduction process

Function(s)

iron ion binding
steroid hydroxylase activity
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
heme binding
vitamin D3 25-hydroxylase activity