RARS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol RARS2
Gene name arginyl-tRNA synthetase 2, mitochondrial
Chromosome 6
Chromosomal band q16.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_020320.3, XM_005248735.1, XM_005248736.1, XM_005248737.1, XR_241848.1
Associated with diseases PCH6
Citation reference(s) -
Curators (0) -
Total number of public variants reported 21
Unique public DNA variants reported 19
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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
HGNC 21406
Entrez Gene 57038
PubMed articles RARS2
OMIM - Gene 611524
OMIM - Diseases PCH6 (PONTOCEREBELLAR HYPOPLASIA, TYPE 6)
HGMD RARS2
GeneCards RARS2
GeneTests RARS2


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000272 6 transcript variant X2 XM_005248736.1 XP_005248793.1 21
00000273 6 transcript variant X1 XM_005248735.1 XP_005248792.1 21
00000274 6 transcript variant X3 XM_005248737.1 XP_005248794.1 21
00000275 6 arginyl-tRNA synthetase 2, mitochondrial NM_020320.3 NP_064716.2 21
00000276 6 transcript variant X4 XR_241848.1 - 21


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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