The SLC33A1 gene homepage

General information
Gene symbol SLC33A1
Gene name solute carrier family 33 (acetyl-CoA transporter), member 1
Chromosome 3
Chromosomal band q25.31
Imprinted Unknown
Genomic reference NG_023365.1
Transcript reference NM_001190992.1, NM_004733.3
Associated with diseases CCHLND, ID, SPG-42
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 4
Unique public DNA variants reported 2
Individuals with public variants 6
Hidden variants 4
Date created November 30, -0001
Date last updated September 20, 2016
Version SLC33A1:160920

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:95
Entrez Gene 9197
PubMed articles SLC33A1
OMIM - Gene 603690
OMIM - Diseases CCHLND (cataracts, congenital, hearing loss, and neurodegeneration (CCHLND))
SPG-42 (paraplegia, spastic, type 42, autosomal dominant (SPG-42))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022795 3 transcript variant 2 NM_001190992.1 NP_001177921.1 4
00022796 3 transcript variant 1 NM_004733.3 NP_004724.1 4