Hs00934091_cn

• Gene Symbol: PAPPA
• Assay Reference Genome Location: Chr.9:116398947 on build GRCh38
• Cytoband: 9q33.1

Target Gene Details

• Entrez Gene ID: 5069
• Gene Name: pappalysin 1
• Gene Aliases: ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
• Location: Chr.9:116153752-116402321 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAPPA	NM_002581.4	22	7596	NP_002572.2
	XM_006717129.2	20	5670	XP_006717192.1
	XM_017014784.1	21	7522	XP_016870273.1
	AK094182.1	1	1357
	CB989873.1	1	685

Target Gene Details

• Entrez Gene ID: 493913
• Gene Name: PAPPA antisense RNA 1
• Gene Aliases: DIPAS, NCRNA00156, PAPPA-AS, PAPPAAS, PAPPAS, TAF2C2, TAF4B, TAFII105
• Location: Chr.9:116398157-116400606 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAPPA-AS1	NR_103711.1	1	1660
	AY623011.1	1	1660	AAV41519.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv7707n100	Chr.9:116372164 - 116538288 on Build GRCh38	Gain	ASTN2 PAPPA ASTN2-AS1 PAPPA-AS1
nsv615253	Chr.9:116368348 - 116409768 on Build GRCh38	Gain	PAPPA PAPPA-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs114182874] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

proteolysis
female pregnancy
cellular protein metabolic process
biological_process

Function(s)

metalloendopeptidase activity
metallopeptidase activity
zinc ion binding
molecular_function