LOVD CTDP1 homepage

General information
Gene name CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Gene symbol CTDP1
Chromosome Location 18q23
Database location the Leiden Muscular Dystrophy pages
Curator Johan den Dunnen
Database reference for citations PMID9405607 PMID9765293
PubMed references View all (unique) PubMed references in the CTDP1 database
Date of creation May 23, 2012
Last update March 29, 2013
Version CTDP1 130329
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Genomic refseq ID NG_007988.1
Transcript refseq ID NM_004715.4
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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NOTE Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the CTDP1 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 2498
Entrez Gene 9150
OMIM - Gene 604927
OMIM - Disease CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
HGMD CTDP1
GeneCards CTDP1
GeneTests CTDP1

Copyright & disclaimer
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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.