View gene PTPN11

General information
Gene symbol PTPN11
Gene name protein tyrosine phosphatase, non-receptor type 11
Chromosome 12
Chromosomal band q24.1
Imprinted Unknown
Genomic reference NG_007459.1
Transcript reference NM_002834.3
Associated with diseases ID, JMML, LPRD-1, NS, Metachondromatosis
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 8
Unique public DNA variants reported 8
Individuals with public variants 9
Hidden variants 1
Date created May 03, 2013
Date last updated June 30, 2015
Version PTPN11:150630

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 9644
Entrez Gene 5781
PubMed articles PTPN11
OMIM - Gene 176876
OMIM - Diseases JMML (CMML)
LPRD-1 (LEOPARD syndrome, type 1 (LPRD-1))
NS (Noonan syndrome (NS))
Metachondromatosis


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017145 12 protein tyrosine phosphatase, non-receptor type 11 NM_002834.3 NP_002825.3 9