POLH gene homepage

General information
Gene symbol POLH
Gene name polymerase (DNA directed), eta
Chromosome 6
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_009252.1
Transcript reference NM_006502.2
Exon/intron information NM_006502.2 exon/intron table
Associated with diseases XPV
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 14
Individuals with public variants 16
Hidden variants 0
Date created May 03, 2013
Date last updated August 05, 2016
Version POLH:160805

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006502.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/POLH
External URL Orphanet
HGNC 9181
Entrez Gene 5429
PubMed articles POLH
OMIM - Gene 603968
OMIM - Diseases XPV (xeroderma pigmentosum, variant type (XPV))
GeneCards POLH
GeneTests POLH

Active transcripts




NCBI ID     

NCBI Protein ID     

00016489 6 polymerase (DNA directed), eta NM_006502.2 NP_006493.1 20

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.