LOVD RPL15 homepage

General information
Gene name ribosomal protein L15
Gene symbol RPL15
Chromosome Location 3p24.1
Database location www.dbagenes.unito.it
Curator I. Boria and U. Ramenghi
PubMed references View all (unique) PubMed references in the RPL15 database
Date of creation February 20, 2014
Last update February 20, 2014
Version RPL15 140220
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000003.12
Transcript refseq ID NM_002948.3
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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NOTE The RPL15 gene comprises 4 exons covering 3.7 KB genomic length for what seems to be the predominant isoform (NM_002948.3) – this is the longest of several transcript variant that all encode the same protein. Its predicted size is 2350 bp; it encodes for a 204 amino acid protein (MW 24 kDa).
The variant reported in the paper deletes the terminal exon (exon 4) of this isoform.
The longest transcript (NM_001253384.1) comprises 5 exons covering 6.8 KB genomic length and seems to be a minor isoform.
This database was partially supported by the ENERCA (European Network for Rare and Congenital Anaemias) project.


Graphical displays and utilities
Summary tables Summary of all sequence variants in the RPL15 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 10306
Entrez Gene 6138
OMIM - Gene 604174
OMIM - Disease 615550 (DBA12)
UniProtKB (SwissProt/TrEMBL) P61313
HGMD RPL15

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