TYMP gene homepage

General information
Gene symbol TYMP
Gene name thymidine phosphorylase
Chromosome 22
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_011860.1
Transcript reference NM_001113755.2, NM_001953.3
Associated with diseases MTDPS-1
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 20
Individuals with public variants 10
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated February 24, 2019
Version TYMP:190224

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
Homepage URL https://www.LOVD.nl/TYMP
External URL Orphanet
HGNC 3148
Entrez Gene 1890
PubMed articles TYMP
OMIM - Gene 131222
OMIM - Diseases MTDPS-1 (mitochondrial DNA depletion syndrome, type 1 (MTDPS-1, MNGIE type))
HGMD TYMP
GeneCards TYMP
GeneTests TYMP


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022190 22 transcript variant 2 NM_001953.3 NP_001944.1 21
00025339 22 transcript variant 1 NM_001113755.2 NP_001107227.1 14


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