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 -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
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
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 2
00000265 2 transcript variant X1 XM_005264629.1 XP_005264686.1 2


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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium