Description

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

Synonyms

SLOS

Location
Gene

This transcript is a product of gene ENSG00000172893

This gene has 12 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
DHCR7-001ENST000003555272666 bp475 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
NM_001163817
NM_001360
NP_001157289
NP_001351
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
DHCR7-003ENST000004077212601 bp475 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
DHCR7-006ENST000005273161005 bp258 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PM00 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-013ENST00000525137996 bp245 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YEJ5 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DHCR7-004ENST00000534795979 bp116 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DHCR7-011ENST00000526780968 bp164 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PIP9 E9PJ54 E9PQ71
E9PRL8
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-014ENST00000533800837 bp221 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H0YE57 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
DHCR7-005ENST00000527452579 bp91 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-008ENST00000529990525 bp73 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PLZ2 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-010ENST00000525346520 bp107 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PQ71 E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-009ENST00000531364507 bp105 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PQ71 E9PRL8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
DHCR7-012ENST00000534701456 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
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Statistics

Exons: 9 Coding exons: 7 Transcript length: 2,666 bps Translation length: 475 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS8200

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9UBM7

Ensembl version

ENST00000355527.4

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays