Transcript: ENST00000527452.1 DHCR7-005

Description

7-dehydrocholesterol reductase [Source:HGNC Symbol;Acc:2860]

Gene Synonyms

D7SR, SLOS

Location

Chromosome 11: 71,155,087-71,163,914 reverse strand.

About this transcript

This transcript has 4 exons, is annotated with 3 domains and features, is associated with 2561 variant alleles and maps to 86 oligo probes.

Gene

This transcript is a product of gene ENSG00000172893.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000355527.3	DHCR7-001	2666	475aa	ENSP00000347717.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8200	B4E1K5 E9PIP9 E9PJ54 E9PQ71 E9PRL8 Q9UBM7	NM_001360.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000407721.2	DHCR7-003	2601	475aa	ENSP00000384739.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8200	B4E1K5 E9PIP9 E9PJ54 E9PQ71 E9PRL8 Q9UBM7	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000527316.1	DHCR7-006	1005	258aa	ENSP00000435047.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PM00	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000525137.1	DHCR7-013	996	245aa	ENSP00000435956.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YEJ5	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000534795.1	DHCR7-004	979	116aa	ENSP00000432256.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000526780.1	DHCR7-011	968	164aa	ENSP00000435668.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIP9 E9PJ54 E9PQ71 E9PRL8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000533800.1	DHCR7-014	837	221aa	ENSP00000435011.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YE57	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000527452.1	DHCR7-005	579	91aa	ENSP00000436007.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PRL8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000529990.1	DHCR7-008	525	73aa	ENSP00000435058.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PLZ2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000525346.1	DHCR7-010	523	108aa	ENSP00000435707.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIP9 E9PQ71 E9PRL8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000531364.1	DHCR7-009	507	105aa	ENSP00000432589.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PQ71 E9PRL8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000534701.1	DHCR7-012	456	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: 4, Coding exons: 2, Transcript length: 579 bps, Translation length: 91 residues

Incomplete CDS

3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete

Version

ENST00000527452.1

Type

Protein coding

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:	OTTHUMT00000394254 (version 1)

Favourite species

All species

Recent locations

Transcript: ENST00000527452.1 DHCR7-005

Summary