Hs01444008_cn

• Gene Symbol: DHCR7
• Assay Reference Genome Location: Chr.11:71447698 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 Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHCR7	NM_001163817.1	2	156	NP_001157289.1
	NM_001360.2	2	179	NP_001351.2
	XM_011544777.1	2	129	XP_011543079.1
	AF034544.1	2	100	AAC05086.1
	AF067127.1			AAD02816.1
	AK289497.1	2	134
	AK303881.1	2	150
	AK312775.1	2	133
	BC000054.2	2	81	AAH00054.1
	BU848891.1	2	63
	DA502590.1	2	179

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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