View gene BMPR1A

General information
Gene symbol BMPR1A
Gene name bone morphogenetic protein receptor, type IA
Chromosome 10
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_009362.1
Transcript reference NM_004329.2
Exon/intron information NM_004329.2
Associated with diseases HMPS-2, JPS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Karl Heinimann
Total number of public variants reported 7
Unique public DNA variants reported 7
Individuals with public variants 7
Hidden variants 67
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 16, 2015
Version BMPR1A:150916

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
Homepage URL http://www.LOVD.nl/BMPR1A
HGNC 1076
Entrez Gene 657
PubMed articles BMPR1A
OMIM - Gene 601299
OMIM - Diseases HMPS-2 (polyposis syndrome, hereditary mixed, type 2 (HMPS-2))
JPS (polyposis syndrome, juvenile (JPS))
HGMD BMPR1A
GeneCards BMPR1A
GeneTests BMPR1A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003435 10 bone morphogenetic protein receptor, type IA NM_004329.2 NP_004320.2 74


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