APRT gene homepage

General information
Gene symbol APRT
Gene name adenine phosphoribosyltransferase
Chromosome 16
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_008013.1
Transcript reference NM_000485.2
Exon/intron information NM_000485.2 exon/intron table
Associated with diseases APRTD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 84
Unique public DNA variants reported 52
Individuals with public variants 39
Hidden variants 9
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated August 21, 2019
Version APRT:190821

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_000485.2.
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/APRT
HGNC 626
Entrez Gene 353
PubMed articles APRT
OMIM - Gene 102600
OMIM - Diseases APRTD (AMP pyrophorylase deficiency (APRTD))
HGMD APRT
GeneCards APRT
GeneTests APRT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002721 16 transcript variant 1 NM_000485.2 NP_000476.1 84


Copyright & disclaimer
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