Description

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

Synonyms

SLOS

Location
About this transcript

This transcript has 9 exons, is annotated with 12 domains and features, is associated with 451 variations and maps to 32 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
DHCR7-001ENST000003555272666475aaENSP00000347717
 
Protein coding
CCDS8200A0A024R5F7 Q9UBM7 NM_001163817
NM_001360
NP_001157289
NP_001351
TSL:1GENCODE basicAPPRIS P1
DHCR7-003ENST000004077212601475aaENSP00000384739
 
Protein coding
CCDS8200A0A024R5F7 Q9UBM7 -TSL:1GENCODE basicAPPRIS P1
DHCR7-006ENST000005273161005258aaENSP00000435047
 
Protein coding
-E9PM00 -CDS 3' incompleteTSL:5
DHCR7-013ENST00000525137996245aaENSP00000435956
 
Protein coding
-H0YEJ5 -CDS 5' incompleteTSL:3
DHCR7-004ENST00000534795979116aaENSP00000432256
 
Protein coding
-H0YCS7 -CDS 5' incompleteTSL:1
DHCR7-011ENST00000526780968164aaENSP00000435668
 
Protein coding
-E9PJ54 -CDS 3' incompleteTSL:2
DHCR7-014ENST00000533800837221aaENSP00000435011
 
Protein coding
-H0YE57 -CDS 5' incompleteTSL:3
DHCR7-005ENST0000052745257991aaENSP00000436007
 
Protein coding
-E9PRL8 -CDS 3' incompleteTSL:4
DHCR7-008ENST0000052999052573aaENSP00000435058
 
Protein coding
-E9PLZ2 -CDS 3' incompleteTSL:4
DHCR7-010ENST00000525346520107aaENSP00000435707
 
Protein coding
-E9PIP9 -CDS 3' incompleteTSL:4
DHCR7-009ENST00000531364507105aaENSP00000432589
 
Protein coding
-E9PQ71 -CDS 3' incompleteTSL:4
DHCR7-012ENST00000534701456No protein-
 
Retained intron
---TSL:3
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

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000355527.7

Type

Known protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

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

Transcript-based displays