Hs01273802_cn

• Gene Symbol: PITPNA
• Assay Reference Genome Location: Chr.17:1519092 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 5306
• Gene Name: phosphatidylinositol transfer protein alpha
• Gene Aliases: HEL-S-36, PI-TPalpha, PITPN, VIB1A
• Location: Chr.17:1517989-1562816 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PITPNA	NM_006224.3	12	2538	NP_006215.1
	XM_011523939.1	11	2450	XP_011522241.1
	XM_011523940.1	12	2960	XP_011522242.1
	AL117644.1	1	305
	BC045108.1	12	2513	AAH45108.1
	BC068538.1	12	2421	AAH68538.1
	BC082976.1	12	2453	AAH82976.1
	EU794647.1	12	2513

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833334	Chr.17:1411327 - 1582381 on Build GRCh38	Loss	PITPNA-AS1 MYO1C SLC43A2 CRK PITPNA INPP5K

More Information

Additional Information:

For this assay, SNP(s) [rs142059189] 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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

lipid metabolic process
visual perception
phospholipid transport

Function(s)

lipid binding
phosphatidylcholine transporter activity
phosphatidylinositol transporter activity