Hs02493868_cn

• Gene Symbol: CYP51A1
• Assay Reference Genome Location: Chr.7:92123895 on build GRCh38
• Cytoband: 7q21.2

Target Gene Details

• Entrez Gene ID: 1595
• Gene Name: cytochrome P450 family 51 subfamily A member 1
• Gene Aliases: CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1
• Location: Chr.7:92112149-92134745 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP51A1	NM_000786.3			NP_000777.1
	NM_001146152.1			NP_001139624.1
	AK295932.1
	AK314205.1
	BC032322.1			AAH32322.1
	D55653.1			BAA09512.1
	U23942.1			AAB39951.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3571987	Chr.7:92120895 - 92126807 on Build GRCh38	Loss	CYP51A1
nsv1109898	Chr.7:92122238 - 92124872 on Build GRCh38	Deletion	CYP51A1
nsv5839	Chr.7:92123796 - 92150740 on Build GRCh38	Insertion	LRRD1 CYP51A1 CYP51A1-AS1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
cholesterol biosynthetic process
sterol metabolic process
cholesterol biosynthetic process via 24,25-dihydrolanosterol
oxidation-reduction process
demethylation

Function(s)

iron ion binding
sterol 14-demethylase activity
heme binding