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_004733.3
Associated with diseases CCHLND, ID, SPG-42
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 22
Individuals with public variants 2
Hidden variants 5
Date created May 03, 2013
Date last updated February 08, 2021
Version SLC33A1:210208

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
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))
Orphanet SLC33A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00019272 3 transcript variant 1 NM_004733.3 NP_004724.1 25

Copyright & disclaimer
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