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_001257988.1
Exon/intron information NM_001257988.1 exon/intron table
Associated with diseases MTDPS-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 57
Unique public DNA variants reported 45
Individuals with public variants 22
Hidden variants 13
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 September 15, 2020
Version TYMP:200915

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_001257988.1.
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))
GeneCards TYMP
GeneTests TYMP

Active transcripts




NCBI ID     

NCBI Protein ID     

00025455 22 transcript variant 4 NM_001257988.1 NP_001244917.1 57

Copyright & disclaimer
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