Transcript: ENST00000492140.1 HSD3B1-002

Description

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [Source:HGNC Symbol;Acc:5217]

Gene Synonyms

3BETAHSD, 3BH, HSD3B, HSDB3, HSDB3A, I, SDR11E1

Location

Chromosome 1: 120,049,836-120,054,575 forward strand.

About this transcript

This transcript has 3 exons, is associated with 2586 variant alleles and maps to 150 oligo probes.

Gene

This transcript is a product of gene ENSG00000203857.5 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000369413.3	HSD3B1-001	1676	373aa	ENSP00000358421.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS903	E9PRN7 P14060	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000235547.6	HSD3B1-201	1680	375aa	ENSP00000235547.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PRN7 Q5TDG2	NM_000862.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000528909.1	HSD3B1-004	1436	373aa	ENSP00000432268.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS903	E9PRN7 P14060	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000531340.1	HSD3B1-005	352	81aa	ENSP00000435999.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PRN7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000492140.1	HSD3B1-002	730	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000487520.1	HSD3B1-003	656	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

Summary

Statistics

Exons: 3, Coding exons: 0, Transcript length: 730 bps,

Version

ENST00000492140.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000099267 (version 1)

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Transcript: ENST00000492140.1 HSD3B1-002

Summary