Human (GRCh38.p14)
Description

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

Gene Synonyms

SLOS

Location
About this transcript

This transcript has 2 exons, is associated with 1371 variant alleles and maps to 80 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: 2, Coding exons: 0, Transcript length: 456 bps,

Transcript Support Level (TSL)

TSL:3

Version

ENST00000534701.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.