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Human (GRCh37.p13)
Description

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

Gene Synonyms

D7SR, SLOS

Location
About this transcript

This transcript has 9 exons, is annotated with 12 domains and features, is associated with 5052 variant alleles and maps to 440 oligo probes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
DHCR7-001ENST00000355527.32666475aaENSP00000347717.3
 
Protein coding
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
NM_001163817
NM_001360
NP_001157289
NP_001351
GENCODE basic
DHCR7-003ENST00000407721.22601475aaENSP00000384739.2
 
Protein coding
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
-GENCODE basic
DHCR7-006ENST00000527316.11005258aaENSP00000435047.1
 
Protein coding
-E9PM00 -CDS 3' incomplete
DHCR7-013ENST00000525137.1996245aaENSP00000435956.1
 
Protein coding
-H0YEJ5 -CDS 5' incomplete
DHCR7-004ENST00000534795.1979116aaENSP00000432256.1
 
Protein coding
---CDS 5' incomplete
DHCR7-011ENST00000526780.1968164aaENSP00000435668.1
 
Protein coding
-E9PIP9 E9PJ54 E9PQ71
E9PRL8
-CDS 3' incomplete
DHCR7-014ENST00000533800.1837221aaENSP00000435011.1
 
Protein coding
-H0YE57 -CDS 5' incomplete
DHCR7-005ENST00000527452.157991aaENSP00000436007.1
 
Protein coding
-E9PRL8 -CDS 3' incomplete
DHCR7-008ENST00000529990.152573aaENSP00000435058.1
 
Protein coding
-E9PLZ2 -CDS 3' incomplete
DHCR7-010ENST00000525346.1523108aaENSP00000435707.1
 
Protein coding
-E9PIP9 E9PQ71 E9PRL8
-CDS 3' incomplete
DHCR7-009ENST00000531364.1507105aaENSP00000432589.1
 
Protein coding
-E9PQ71 E9PRL8 -CDS 3' incomplete
DHCR7-012ENST00000534701.1456No protein-
 
Retained intron
----
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

Version

ENST00000355527.3

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:
OTTHUMT00000394243 (version 1)
GENCODE basic gene

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

Transcript-based displays