The MTAP gene homepage

General information
Gene symbol MTAP
Gene name methylthioadenosine phosphorylase
Chromosome 9
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_032650.1
Transcript reference NM_002451.3
Exon/intron information NM_002451.3 exon/intron table
Associated with diseases DMSMFH
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 12
Unique public DNA variants reported 9
Individuals with public variants 7
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 18, 2012
Date last updated June 25, 2020
Version MTAP:200625

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_002451.3.
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 https://www.LOVD.nl/MTAP
HGNC 7413
Entrez Gene 4507
PubMed articles MTAP
OMIM - Gene 156540
OMIM - Diseases DMSMFH (stenosis, medullary, diaphyseal, with malignant fibrous histiocytoma (DMSMFH))
HGMD MTAP
GeneCards MTAP
GeneTests MTAP
Orphanet MTAP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013999 9 methylthioadenosine phosphorylase NM_002451.3 NP_002442.2 12


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