Product Details

Assay Reference Genome
Location

Chr.12:112436672 on build GRCh38
Cytoband
12q24.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
5781
Gene Symbol
PTPN11
Gene Name
protein tyrosine phosphatase, non-receptor type 11
Gene Aliases
BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2
Location
Chr.12:112418732-112509913 on build GRCh38
Assay Gene Location
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
PTPN11 NM_002834.3 NP_002825.3
NM_080601.1 NP_542168.1
XM_006719526.2 XP_006719589.1
XM_011538613.2 XP_011536915.1
XM_017019722.1 XP_016875211.1
AK289854.1
BC008692.1 AAH08692.1
D13540.1 BAA02740.2
L03535.1 AAA36611.1
L07527.1 AAA17022.1
L08807.1
X70766.1 CAA50045.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1043127 Chr12:112419957 - 112462894 on Build GRCh38 Gain PTPN11
esv2661618 Chr12:112434313 - 112437456 on Build GRCh38 Deletion PTPN11
esv3630778 Chr12:112434300 - 112437591 on Build GRCh38 Loss PTPN11

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