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See other PITPNM1 CNV Assays ›
Gene Symbol
PITPNM1
Assay Reference Genome
Location

Chr.11:67494004 on build GRCh38
Cytoband
11q13.2
Assay ID Hs00450417_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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:

 Overlaps Intron 20 - Exon 21
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PITPNM1 NM_001130848.1 NP_001124320.1
NM_004910.2 NP_004901.2
XM_011545396.2 XP_011543698.1
XM_017018586.1 XP_016874075.1
AF334584.1 AAK01444.1
AK126944.1
AK312886.1
AY429102.1 AAR06909.1
BC022230.1 AAH22230.1
X98654.1 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 MIR6752 RPS6KB2 TMEM134 PITPNM1 CORO1B AIP CDK2AP2 PTPRCAP CARNS1 GPR152 CABP4
esv2422195 Chr.11:67466851 - 67859430 on Build GRCh38 Duplication MIR6752 TBX10 TMEM134 ACY3 PITPNM1 C11orf72 GSTP1 AIP CDK2AP2 DOC2GP CABP2 NUDT8 ALDH3B2 NDUFV1 FAM86C2P
dgv1977n54 Chr.11:67397024 - 67521123 on Build GRCh38 Loss MIR6752 TBC1D10C TMEM134 PITPNM1 CORO1B AIP CDK2AP2 CABP4 RAD9A RPS6KB2 CABP2 PPP1CA PTPRCAP CARNS1 GPR152
nsv368 Chr.11:67479842 - 67509866 on Build GRCh38 Insertion MIR6752 PITPNM1 AIP CDK2AP2
dgv52n111 Chr.11:67362651 - 67521123 on Build GRCh38 Deletion MIR6752 TBC1D10C LOC100130987 TMEM134 PITPNM1 CORO1B AIP CDK2AP2 CABP4 RAD9A RPS6KB2 CABP2 CLCF1 PPP1CA PTPRCAP CARNS1 GPR152
nsv521723 Chr.11:67408221 - 67543787 on Build GRCh38 Loss MIR6752 TBC1D10C TMEM134 PITPNM1 CORO1B AIP CDK2AP2 CABP4 RPS6KB2 CABP2 PTPRCAP CARNS1 GPR152
nsv951022 Chr.11:67493430 - 67504729 on Build GRCh38 Deletion PITPNM1
nsv527056 Chr.11:67439955 - 67526837 on Build GRCh38 Loss MIR6752 TMEM134 CABP2 PITPNM1 CORO1B AIP CDK2AP2 GPR152 CABP4

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Function(s) Process(es)


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