LOVD EBP homepage

General information
Gene name emopamil binding protein (sterol isomerase)
Gene symbol EBP
Chromosome Location Xp11.23-p11.22
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
Database reference for citations PMID7706302 PMID8938429
PubMed references View all (unique) PubMed references in the EBP database
Date of creation April 29, 2010
Last update January 05, 2013
Version EBP130105
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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 EBP database, sorted by type of variant (with graphical displays and statistics)
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 3133
Entrez Gene 10682
OMIM - Gene 300205
UniProtKB (SwissProt/TrEMBL) Q15125
External link Orphanet