Eye diseases - LOVD
PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8)
LOVD v.2.0 Build 35 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
LOVD-team, but with Curator vacancy
PRPF8 homepage
Switch gene
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
July 04, 2012
Version
PRPF8 120704
Add sequence variant
Submit a sequence variant
First time submitters
Register here
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
Subscribe to updates of this gene
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
Powered by
LOVD v.2.0
Build 35
Enabled modules: showmaxdbid, recaptcha, mutalyzer
©2004-2012
Leiden University Medical Center