Product Details

Assay Reference Genome Location: Chr.12:112429931 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

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