Hs01197887_cn

• Gene Symbol: HSD3B2
• Assay Reference Genome Location: Chr.1:119415180 on build GRCh38
• Cytoband: 1p12

Target Gene Details

• Entrez Gene ID: 3284
• Gene Name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
• Gene Aliases: HSD3B, HSDB, SDR11E2
• Location: Chr.1:119414931-119423039 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HSD3B2	NM_000198.3			NP_000189.1
	NM_001166120.1			NP_001159592.1
	AK222997.1			BAD96717.1
	AK313413.1
	AV705363.1
	BC038419.1			AAH38419.1
	BC131488.1	1	535
	BP197992.1
	CF596786.1
	M67466.1			AAA36016.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2763647	Chr.1:119386819 - 119612175 on Build GRCh38	Gain+Loss	HSD3B1 LINC00622 HSD3BP4 HAO2 HSD3B2
nsv2599	Chr.1:119392400 - 119425125 on Build GRCh38	Deletion	HAO2 HSD3B2
esv34089	Chr.1:119209489 - 119530338 on Build GRCh38	Loss	HSD3B1 LOC101929147 HAO2-IT1 HAO2 HSD3B2
nsv1004662	Chr.1:119304824 - 119612175 on Build GRCh38	Gain	HSD3B1 HAO2-IT1 LINC00622 HSD3BP4 HAO2 HSD3B2
nsv524681	Chr.1:118890895 - 121570001 on Build GRCh38	Gain	LOC101929796 WARS2-IT1 LOC105378933 HSD3B1 NBPF26 ADAM30 HAO2-IT1 LINC00622 LOC100996724 HAO2 LOC100996720 REG4 LINC00623 SEC22B SRGAP2C LOC100996721 PPIAL4A LOC101929147 SRGAP2-AS1 LOC105369199 EMBP1 WARS2 PFN1P2 NOTCH2 HSD3BP4 HSD3B2 ZNF697 PHGDH HIST2H2BA FAM72B RNVU1-4 TBX15 FCGR1B NBPF8 LOC101929798 LOC100996318 HMGCS2 RNVU1-19 NBPF7

More Information

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

Panther Classification:

Molecular Function -

dehydratase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
androgen biosynthetic process
glucocorticoid biosynthetic process
mineralocorticoid biosynthetic process
oxidation-reduction process

Function(s)

3-beta-hydroxy-delta5-steroid dehydrogenase activity
steroid delta-isomerase activity