The SC5D gene homepage

General information
Gene symbol SC5D
Gene name sterol-C5-desaturase
Chromosome 11
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_009446.1
Transcript reference NM_001024956.2, NM_006918.4
Associated with diseases ID, lathosterolosis
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 2
Hidden variants 2
Date created November 30, -0001
Date last updated September 20, 2016
Version SC5D:160920

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:10547
Entrez Gene 6309
PubMed articles SC5D
OMIM - Gene 602286
OMIM - Diseases lathosterolosis


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028760 11 transcript variant 1 NM_006918.4 NP_008849.2 2
00028761 11 transcript variant 2 NM_001024956.2 NP_001020127.1 2