Hs01948668_cn

• Gene Symbol: DHCR7
• Assay Reference Genome Location: Chr.11:71435014 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 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DHCR7	NM_001163817.1	9	2039	NP_001157289.1
	NM_001360.2	9	2062	NP_001351.2
	XM_011544777.1	9	2146	XP_011543079.1
	AF034544.1	9	1983	AAC05086.1
	AF062481.1	7	1752	AAC18345.1
	AF067127.1	8	1891	AAD02816.1
	AF096305.1	7	1794	AAD09766.1
	AK289497.1	9	2017
	AK303881.1
	AK309625.1
	BC000054.2	9	1964	AAH00054.1

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 NADSYN1 DHCR7 FLJ42102

More Information

Additional Information:

For this assay, SNP(s) [rs78575838] 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 -

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