Hs06640101_cn

• Gene Symbol: PXYLP1
• Assay Reference Genome Location: Chr.3:141249877 on build GRCh38
• Cytoband: 3q23

Target Gene Details

• Entrez Gene ID: 92370
• Gene Name: 2-phosphoxylose phosphatase 1
• Gene Aliases: ACPL2, HEL124, XYLP
• Location: Chr.3:141231825-141294903 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PXYLP1	NM_001037172.2			NP_001032249.1
	NM_001282728.1			NP_001269657.1
	NM_152282.4			NP_689495.1
	XM_017007510.1			XP_016862999.1
	XM_017007511.1			XP_016863000.1
	AB827640.1
	AK074331.1			BAB85053.1
	AK297790.1
	AY358460.1			AAQ88825.1
	BC035834.1			AAH35834.1
	BX647621.1
	CD101677.1
	CX762355.1
	DC409719.1
	EU794677.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv591892	Chr.3:141219704 - 141286732 on Build GRCh38	Loss	PXYLP1
nsv4039	Chr.3:141230054 - 141263710 on Build GRCh38	Insertion	PXYLP1

More Information

Additional Information:

For this assay, SNP(s) [rs72994962,rs73232936] 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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

glycosaminoglycan biosynthetic process
positive regulation of heparan sulfate proteoglycan biosynthetic process
dephosphorylation
chondroitin sulfate proteoglycan biosynthetic process

Function(s)

acid phosphatase activity
protein binding
phosphatase activity