The HSD3B2 gene homepage

General information
Gene symbol HSD3B2
Gene name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Chromosome 1
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_013349.1
Transcript reference NM_000198.3
Associated with diseases 3 beta-hydroxysteroid dehydrogenase deficiency
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 12
Unique public DNA variants reported 12
Individuals with public variants 5
Hidden variants 3
Date created May 03, 2013
Date last updated February 08, 2021
Version HSD3B2:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 5218
Entrez Gene 3284
PubMed articles HSD3B2
OMIM - Gene 613890
OMIM - Diseases 3 beta-hydroxysteroid dehydrogenase deficiency
Orphanet HSD3B2

Active transcripts




NCBI ID     

NCBI Protein ID     

00009639 1 transcript variant 1 NM_000198.3 NP_000189.1 12

Copyright & disclaimer
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