Human (GRCh38.p14)
Description

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

Gene Synonyms

SLOS

Location
About this transcript

This transcript has 9 exons, is annotated with 14 domains and features, is associated with 7345 variant alleles and maps to 478 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355527.8DHCR7-2012627475aaENSP00000347717.4
 
Protein coding
CCDS8200A0A024R5F7 Q9UBM7 NM_001360.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000526780.6DHCR7-2052850475aaENSP00000435668.2
 
Protein coding
CCDS8200A0A024R5F7 E9PJ54 Q9UBM7
-GENCODE basicAPPRIS P1TSL:2
ENST00000682708.1DHCR7-2132710492aaENSP00000506866.1
 
Protein coding
A0A804HI25 -GENCODE basic
ENST00000683287.1DHCR7-2152695487aaENSP00000507607.1
 
Protein coding
A0A804HJQ7 -GENCODE basic
ENST00000683714.1DHCR7-2162645414aaENSP00000508207.1
 
Protein coding
A0A804HL56 -GENCODE basic
ENST00000525346.6DHCR7-2042603475aaENSP00000435707.3
 
Protein coding
CCDS8200A0A024R5F7 E9PIP9 Q9UBM7
-APPRIS P1TSL:4
ENST00000407721.6DHCR7-2022601475aaENSP00000384739.2
 
Protein coding
CCDS8200A0A024R5F7 Q9UBM7 -GENCODE basicAPPRIS P1TSL:1
ENST00000690257.1DHCR7-2202515443aaENSP00000510750.1
 
Protein coding
A0A8I5KRR9 --
ENST00000682880.1DHCR7-2142472366aaENSP00000507520.1
 
Protein coding
A0A804HJI8 -GENCODE basic
ENST00000685320.1DHCR7-2192287280aaENSP00000509319.1
 
Protein coding
B4E1K5 -GENCODE basic
ENST00000527316.6DHCR7-2061732417aaENSP00000435047.2
 
Protein coding
E9PM00 -GENCODE basicTSL:5
ENST00000525137.1DHCR7-203996245aaENSP00000435956.1
 
Protein coding
H0YEJ5 -TSL:3CDS 5' incomplete
ENST00000534795.5DHCR7-212979116aaENSP00000432256.1
 
Protein coding
H0YCS7 -TSL:1CDS 5' incomplete
ENST00000533800.5DHCR7-210837221aaENSP00000435011.1
 
Protein coding
H0YE57 -TSL:3CDS 5' incomplete
ENST00000527452.1DHCR7-20757991aaENSP00000436007.1
 
Protein coding
E9PRL8 -TSL:4CDS 3' incomplete
ENST00000529990.6DHCR7-20852535aaENSP00000435058.2
 
Protein coding
E9PLZ2 -TSL:4CDS 3' incomplete
ENST00000531364.5DHCR7-209507105aaENSP00000432589.1
 
Protein coding
E9PQ71 -TSL:4CDS 3' incomplete
ENST00000684396.1DHCR7-2182422No protein-
 
Retained intron
---
ENST00000683874.1DHCR7-2171658No protein-
 
Retained intron
---
ENST00000534701.1DHCR7-211456No protein-
 
Retained intron
--TSL:3
Statistics

Exons: 9, Coding exons: 7, Transcript length: 2,627 bps, Translation length: 475 residues

MANE

This MANE Select transcript contains ENSP00000347717 and matches to NM_001360.3 and NP_001351.2

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9UBM7

CCDS

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

Transcript Support Level (TSL)

TSL:1

Version

ENST00000355527.8

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.

GENCODE basic gene

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