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LOVD SPATA7 homepage

General information
Gene name Spermatogenesis associated 7
Gene symbol SPATA7
Chromosome Location 14q31.3
Database location
Curator Johan den Dunnen
PubMed references View all (unique) PubMed references in the SPATA7 database
Date of creation April 29, 2010
Last update March 01, 2015
Version SPATA7 150301
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_021183.1
Transcript refseq ID NM_018418.4
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 SPATA7 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 20423
Entrez Gene 55812
OMIM - Gene 609868
OMIM - Disease #1 Leber congenital amaurosis, type 3 (LCA-3)
OMIM - Disease #2 retinitis pigmentosa, juvenile, autosomal recessive
UniProtKB (SwissProt/TrEMBL) Q9P0W8
GeneCards SPATA7
GeneTests SPATA7
External link Orphanet

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2015. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.