The MRPL3 gene homepage

General information
Gene symbol MRPL3
Gene name mitochondrial ribosomal protein L3
Chromosome 3
Chromosomal band q21-q23
Imprinted Unknown
Genomic reference NG_029207.1
Transcript reference NM_007208.3
Exon/intron information NM_007208.3 exon/intron table
Associated with diseases COXPD9
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 9
Unique public DNA variants reported 8
Individuals with public variants 7
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 June 20, 2011
Date last updated September 17, 2021
Version MRPL3:210917

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_007208.3.
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 http://www.LOVD.nl/MRPL3
HGNC 10379
Entrez Gene 11222
PubMed articles MRPL3
OMIM - Gene 607118
OMIM - Diseases COXPD9 (combined oxidative phosphorylation deficiency, type 9 (COXPD-9))
HGMD MRPL3
GeneCards MRPL3
GeneTests MRPL3
Orphanet MRPL3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013844 3 mitochondrial ribosomal protein L3 NM_007208.3 NP_009139.1 9


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