Human (GRCh37.p13)
Description

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

Gene Synonyms

D7SR, SLOS

Location

Chromosome 11: 71,139,239-71,163,914 reverse strand.

GRCh37:CM000673.1

About this gene

This gene has 12 transcripts (splice variants), 2 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000355527.3DHCR7-0012666475aaENSP00000347717.3
 
Protein coding
CCDS8200B4E1K5 E9PIP9 E9PJ54
E9PQ71 E9PRL8 Q9UBM7
NM_001360.2GENCODE 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
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