LOVD PRPF8 homepage

General information
Gene name PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Gene symbol PRPF8
Chromosome Location 17p13.3
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the PRPF8 database
Date of creation July 04, 2012
Last update October 03, 2013
Version PRPF8 131003
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_009118.1
Transcript refseq ID NM_006445.3
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 PRPF8 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 17340
Entrez Gene 10594
OMIM - Gene 607300
UniProtKB (SwissProt/TrEMBL) Q6P2Q9
HGMD PRPF8
GeneCards PRPF8
GeneTests PRPF8