Hs04394452_cn

• Gene Symbol: PTPMT1
• Assay Reference Genome Location: Chr.11:47567497 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 114971
• Gene Name: protein tyrosine phosphatase, mitochondrial 1
• Gene Aliases: DUSP23, MOSP, PLIP, PNAS-129
• Location: Chr.11:47565430-47573461 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTPMT1	NM_001143984.1			NP_001137456.1
	NM_175732.2			NP_783859.1
	AF277187.1			AAK07545.1
	AK294640.1
	AY333987.1			AAP94732.1
	BC014048.1			AAH14048.1
	BC020242.1			AAH20242.1
	DA476984.1
	DR004030.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832142	Chr.11:47496403 - 47659758 on Build GRCh38	Loss	NDUFS3 FAM180B C1QTNF4 AGBL2 CELF1 KBTBD4 PTPMT1 MTCH2
nsv825872	Chr.11:47543873 - 47638778 on Build GRCh38	Gain	NDUFS3 FAM180B C1QTNF4 CELF1 KBTBD4 PTPMT1 MTCH2
nsv314	Chr.11:47540012 - 47584704 on Build GRCh38	Deletion	NDUFS3 CELF1 KBTBD4 PTPMT1

More Information

Additional Information:

For this assay, SNP(s) [rs73461796] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cardiolipin biosynthetic process
peptidyl-tyrosine dephosphorylation

Function(s)

phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
protein tyrosine phosphatase activity
protein binding
protein tyrosine/serine/threonine phosphatase activity
phosphatidylglycerophosphatase activity