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

Chr.11:67502090 on build GRCh38
Cytoband
11q13.2
Assay ID Hs02051547_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 5 - Exon 6
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
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 CABP4 CARNS1 CDK2AP2 PTPRCAP MIR6752 PITPNM1 GPR152 CORO1B AIP TMEM134 RPS6KB2
esv2422195 Chr.11:67466851 - 67859430 on Build GRCh38 Duplication FAM86C2P DOC2GP CDK2AP2 MIR6752 PITPNM1 NUDT8 CABP2 GSTP1 ALDH3B2 C11orf72 ACY3 TBX10 NDUFV1 AIP TMEM134
dgv1977n54 Chr.11:67397024 - 67521123 on Build GRCh38 Loss CABP4 CARNS1 CDK2AP2 MIR6752 PITPNM1 RAD9A GPR152 TBC1D10C CABP2 PTPRCAP PPP1CA CORO1B AIP TMEM134 RPS6KB2
nsv368 Chr.11:67479842 - 67509866 on Build GRCh38 Insertion CDK2AP2 MIR6752 PITPNM1 AIP
dgv52n111 Chr.11:67362651 - 67521123 on Build GRCh38 Deletion CABP4 CARNS1 CDK2AP2 MIR6752 CLCF1 PITPNM1 RAD9A GPR152 TBC1D10C CABP2 LOC100130987 PTPRCAP PPP1CA CORO1B AIP TMEM134 RPS6KB2
nsv521723 Chr.11:67408221 - 67543787 on Build GRCh38 Loss CABP4 CARNS1 CDK2AP2 MIR6752 PITPNM1 GPR152 TBC1D10C CABP2 PTPRCAP CORO1B AIP TMEM134 RPS6KB2
nsv951022 Chr.11:67493430 - 67504729 on Build GRCh38 Deletion PITPNM1
nsv527056 Chr.11:67439955 - 67526837 on Build GRCh38 Loss CABP4 CDK2AP2 MIR6752 PITPNM1 GPR152 CABP2 CORO1B AIP TMEM134

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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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