MTPAP gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MTPAP
Gene name mitochondrial poly(A) polymerase
Chromosome 10
Chromosomal band p12.1
Imprinted Unknown
Genomic reference NC_000010.10
Transcript reference NM_018109.3
Associated with diseases SPAX4
Citation reference(s) -
Curators (0) -
Total number of public variants reported 6
Unique public DNA variants reported 5
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 25532
Entrez Gene 55149
PubMed articles MTPAP
OMIM - Gene 613669
OMIM - Diseases SPAX4 (Ataxia, spastic, 4, 613672 (3))
HGMD MTPAP
GeneCards MTPAP
GeneTests MTPAP


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000181 10 mitochondrial poly(A) polymerase NM_018109.3 NP_060579.3 6


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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