Hs02949674_cn

• Gene Symbol: PITPNM1
• Assay Reference Genome Location: Chr.11:67491835 on build GRCh38
• Cytoband: 11q13.2

Target Gene Details

• Entrez Gene ID: 9600
• Gene Name: phosphatidylinositol transfer protein membrane associated 1
• Gene Aliases: DRES9, NIR2, PITPNM, RDGB, RDGB1, RDGBA, RDGBA1, Rd9
• Location: Chr.11:67491760-67505391 on Build GRCh38
• Assay Gene Location: Within Exon 25

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PITPNM1	NM_001130848.1	24	4156	NP_001124320.1
	NM_004910.2	24	4159	NP_004901.2
	XM_011545396.2	24	4175	XP_011543698.1
	XM_017018586.1	24	4219	XP_016874075.1
	AF334584.1	24	4106	AAK01444.1
	AK126944.1	13	3644
	BC022230.1	24	4149	AAH22230.1
	X98654.1	23	4122	CAA67224.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv468604	Chr.11:67418529 - 67516420 on Build GRCh38	Loss	CARNS1 CABP4 CDK2AP2 GPR152 TMEM134 CORO1B AIP PITPNM1 MIR6752 RPS6KB2 PTPRCAP
esv2422195	Chr.11:67466851 - 67859430 on Build GRCh38	Duplication	NDUFV1 CABP2 CDK2AP2 TMEM134 DOC2GP TBX10 MIR6752 FAM86C2P ALDH3B2 NUDT8 C11orf72 AIP PITPNM1 GSTP1 ACY3
dgv1977n54	Chr.11:67397024 - 67521123 on Build GRCh38	Loss	CABP2 TBC1D10C CDK2AP2 TMEM134 CORO1B MIR6752 RAD9A PPP1CA CARNS1 CABP4 GPR152 AIP PITPNM1 RPS6KB2 PTPRCAP
nsv368	Chr.11:67479842 - 67509866 on Build GRCh38	Insertion	CDK2AP2 AIP PITPNM1 MIR6752
dgv52n111	Chr.11:67362651 - 67521123 on Build GRCh38	Deletion	CABP2 TBC1D10C CDK2AP2 TMEM134 CORO1B MIR6752 LOC100130987 RAD9A PPP1CA CLCF1 CARNS1 CABP4 GPR152 AIP PITPNM1 RPS6KB2 PTPRCAP
nsv521723	Chr.11:67408221 - 67543787 on Build GRCh38	Loss	CABP2 TBC1D10C CDK2AP2 TMEM134 CORO1B MIR6752 CARNS1 CABP4 GPR152 AIP PITPNM1 RPS6KB2 PTPRCAP
nsv527056	Chr.11:67439955 - 67526837 on Build GRCh38	Loss	CABP2 CABP4 CDK2AP2 GPR152 TMEM134 CORO1B AIP PITPNM1 MIR6752

More Information

Additional Information:

For this assay, SNP(s) [rs75798418] 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
brain development
phototransduction
protein transport
phospholipid transport

Function(s)

protein binding
phosphatidylinositol transporter activity
metal ion binding