BLOC1S3 homepage - CCHMC Molecular Genetics Laboratory Mutation Database

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
First time submitters	Register here
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

CCHMC Molecular Genetics Laboratory Mutation Database