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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 3 exons, is annotated with 10 domains and features, is associated with 1696 variant alleles and maps to 143 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000355527.3DHCR7-0012666475aaENSP00000347717.3
 
Protein coding
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
NM_001163817
NM_001360
NP_001157289
NP_001351
GENCODE basic
ENST00000407721.2DHCR7-0032601475aaENSP00000384739.2
 
Protein coding
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
-GENCODE basic
ENST00000527316.1DHCR7-0061005258aaENSP00000435047.1
 
Protein coding
-E9PM00 -CDS 3' incomplete
ENST00000525137.1DHCR7-013996245aaENSP00000435956.1
 
Protein coding
-H0YEJ5 -CDS 5' incomplete
ENST00000534795.1DHCR7-004979116aaENSP00000432256.1
 
Protein coding
---CDS 5' incomplete
ENST00000526780.1DHCR7-011968164aaENSP00000435668.1
 
Protein coding
-E9PIP9 E9PJ54 E9PQ71
E9PRL8
-CDS 3' incomplete
ENST00000533800.1DHCR7-014837221aaENSP00000435011.1
 
Protein coding
-H0YE57 -CDS 5' incomplete
ENST00000527452.1DHCR7-00557991aaENSP00000436007.1
 
Protein coding
-E9PRL8 -CDS 3' incomplete
ENST00000529990.1DHCR7-00852573aaENSP00000435058.1
 
Protein coding
-E9PLZ2 -CDS 3' incomplete
ENST00000525346.1DHCR7-010523108aaENSP00000435707.1
 
Protein coding
-E9PIP9 E9PQ71 E9PRL8
-CDS 3' incomplete
ENST00000531364.1DHCR7-009507105aaENSP00000432589.1
 
Protein coding
-E9PQ71 E9PRL8 -CDS 3' incomplete
ENST00000534701.1DHCR7-012456No protein-
 
Retained intron
----
Statistics

Exons: 3, Coding exons: 3, Transcript length: 996 bps, Translation length: 245 residues

Incomplete CDS

CDS 5' incomplete

Version

ENST00000525137.1

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:
OTTHUMT00000394246 (version 1)

Transcript-based displays