Product Details

Assay Reference Genome Location: Chr.12:112418764 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
PTPN11	NM_002834.3			NP_002825.3
	NM_080601.1			NP_542168.1
	BF515187.1

Entrez Gene ID: 6128
Gene Symbol: RPL6
Gene Name: ribosomal protein L6
Gene Aliases: L6, SHUJUN-2, TAXREB107, TXREB1
Location: Chr.12:112405181-112418850 on build GRCh38
Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
RPL6	NM_001320141.1			NP_001307070.1
	XM_017019781.1	1	87	XP_016875270.1
	BG722198.1
	HY038019.1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3580466	Chr12:112403584 - 112419956 on Build GRCh38	Loss	PTPN11 RPL6

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