Hs01427156_cn

• Gene Symbol: HSD3B7
• Assay Reference Genome Location: Chr.16:30985740 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 80270
• Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
• Gene Aliases: CBAS1, PFIC4, SDR11E3
• Location: Chr.16:30985189-30989152 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSD3B7	NM_001142777.1	2	381	NP_001136249.1
	NM_001142778.1	2	188	NP_001136250.1
	NM_025193.3	2	188	NP_079469.2
	XM_005255601.3	2	169	XP_005255658.2
	XM_011545960.2	2	366	XP_011544262.1
	XM_011545961.1	2	372	XP_011544263.1
	XM_011545962.2	2	169	XP_011544264.1
	XM_017023732.1	2	350	XP_016879221.1
	AF277719.1	1	100	AAG37824.1
	AK057436.1	2	372	BAB71486.1
	AK290950.1	2	142
	AK292068.1	2	332
	BC004929.1	2	175	AAH04929.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv457483	Chr.16:30892358 - 31180161 on Build GRCh38	Loss	ZNF668 MIR762HG SETD1A CTF1 STX4 PRSS53 HSD3B7 VKORC1 PRSS8 PRSS36 BCKDK STX1B BCL7C KAT8 MIR762 ORAI3 LOC101928762 FBXL19-AS1 FUS ZNF646 FBXL19
dgv35n68	Chr.16:30833730 - 31036730 on Build GRCh38	Loss	STX1B BCL7C MIR762HG MIR4519 SETD1A MIR762 ORAI3 CTF1 FBXL19-AS1 STX4 FBXL19 HSD3B7
nsv833193	Chr.16:30949475 - 31122283 on Build GRCh38	Gain+Loss	ZNF668 BCKDK STX1B KAT8 SETD1A ORAI3 LOC101928762 STX4 PRSS53 ZNF646 HSD3B7 VKORC1
nsv953802	Chr.16:30876680 - 30999279 on Build GRCh38	Deletion	STX1B BCL7C MIR762HG SETD1A MIR762 ORAI3 CTF1 FBXL19-AS1 FBXL19 HSD3B7

More Information

Additional Information:

For this assay, SNP(s) [rs201796375] 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 -

dehydratase

Gene Ontology Categories:

Process(es)

bile acid biosynthetic process
B cell chemotaxis
oxidation-reduction process

Function(s)

3-beta-hydroxy-delta5-steroid dehydrogenase activity
protein binding
cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity