Description

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

Synonyms

SLOS

Location
About this transcript

This transcript has 4 exons, is annotated with 3 domains and features, is associated with 95 variations and maps to 8 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: 4 Coding exons: 2 Transcript length: 520 bps Translation length: 107 residues

Transcript Support Level (TSL)

TSL:4

Ensembl version

ENST00000525346.5

Type

Known 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:

Transcript-based displays