Hs00232220_cn

• Gene Symbol: PITPNA
• Assay Reference Genome Location: Chr.17:1519857 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	1773	NP_006215.1
	XM_011523939.1	11	1685	XP_011522241.1
	XM_011523940.1	12	2195	XP_011522242.1
	BC045108.1	12	1748	AAH45108.1
	BC068538.1	12	1656	AAH68538.1
	BC082976.1	12	1688	AAH82976.1
	D30036.1	12	1725	BAA06276.1
	EU794647.1	12	1748

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	SLC43A2 INPP5K CRK PITPNA-AS1 PITPNA MYO1C

More Information

• 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