PNPT1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PNPT1
Gene name polyribonucleotide nucleotidyltransferase 1
Chromosome 2
Chromosomal band p15
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_033109.4, XM_005264629.1
Associated with diseases 614932
Citation reference(s) -
Curators (0) -
Total number of public variants reported 15
Unique public DNA variants reported 14
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 23166
Entrez Gene 87178
PubMed articles PNPT1
OMIM - Gene 610316
OMIM - Diseases 614932 (Combined oxidative phosphorylation deficiency 13, 614932 (3))
HGMD PNPT1
GeneCards PNPT1
GeneTests PNPT1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000264 2 polyribonucleotide nucleotidyltransferase 1 NM_033109.4 NP_149100.2 15
00000265 2 transcript variant X1 XM_005264629.1 XP_005264686.1 15


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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