Hs05258861_cn

• Gene Symbol: DHCR7
• Assay Reference Genome Location: Chr.11:71443581 on build GRCh38
• Cytoband: 11q13.4

Target Gene Details

• Entrez Gene ID: 1717
• Gene Name: 7-dehydrocholesterol reductase
• Gene Aliases: SLOS
• Location: Chr.11:71434411-71448431 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHCR7	NM_001163817.1			NP_001157289.1
	NM_001360.2			NP_001351.2
	XM_011544777.1			XP_011543079.1
	AF034544.1			AAC05086.1
	AF062481.1			AAC18345.1
	AF067127.1			AAD02816.1
	AF096305.1			AAD09766.1
	AK289497.1
	AK303881.1
	AK312775.1
	BC000054.2			AAH00054.1
	BU848891.1
	KJ534821.1
	KJ534963.1
	KJ534997.1
	KU178026.1
	KU178027.1
	KU178028.1
	KU178029.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518163	Chr.11:71431304 - 71444107 on Build GRCh38	Loss	DHCR7
dgv74n21	Chr.11:71357749 - 71504834 on Build GRCh38	Loss	MIR6754 FLJ42102 NADSYN1 DHCR7

More Information

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

Panther Classification:

Molecular Function -

reductase

Gene Ontology Categories:

Process(es)

blood vessel development
cholesterol biosynthetic process
post-embryonic development
cell differentiation
lung development
cholesterol biosynthetic process via desmosterol
cholesterol biosynthetic process via lathosterol
multicellular organism growth
regulation of cell proliferation
regulation of cholesterol biosynthetic process
oxidation-reduction process

Function(s)

7-dehydrocholesterol reductase activity
NADP binding