The EPOR gene homepage

General information
Gene symbol EPOR
Gene name erythropoietin receptor
Chromosome 19
Chromosomal band p13.3-p13.2
Imprinted Unknown
Genomic reference NG_021395.1
Transcript reference NM_000121.3, NM_175871.3, NR_033663.1
Associated with diseases ECYT-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 15
Unique public DNA variants reported 8
Individuals with public variants 18
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version EPOR:160920

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:3416
Entrez Gene 2057
PubMed articles EPOR
OMIM - Gene 133171
OMIM - Diseases ECYT-1 (erythrocytosis, familial, type 1 (ECYT-1))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00029693 19 transcript variant 1 NM_000121.3 NP_000112.1 15
00031602 19 Manually created transcript (removed from reference sequence) NM_175871.3 - 10
00039628 19 transcript variant 2 NR_033663.1 - -