LOVD BLOC1S3 homepage

General information
Gene name biogenesis of lysosomal organelles complex-1, subunit 3
Gene symbol BLOC1S3
Chromosome Location 19q13.32
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the BLOC1S3 database
Date of creation May 02, 2014
Last update May 02, 2014
Version BLOC1S3 140502
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the BLOC1S3 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 20914
Entrez Gene 388552
OMIM - Gene 609762
UniProtKB (SwissProt/TrEMBL) Q6QNY0