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

Chr.11:67492043 on build GRCh38
Cytoband
11q13.2
Assay ID Hs00456079_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:

 Within Exon 25
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PITPNM1 NM_001130848.1 24 3948 NP_001124320.1
NM_004910.2 24 3951 NP_004901.2
XM_011545396.2 24 3967 XP_011543698.1
XM_017018586.1 24 4011 XP_016874075.1
AF334584.1 24 3898 AAK01444.1
AK126944.1 13 3436
AK312886.1
AY429102.1 AAR06909.1
BC022230.1 24 3941 AAH22230.1
X98654.1 23 3914 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 CORO1B CABP4 GPR152 PTPRCAP PITPNM1 RPS6KB2 CDK2AP2 MIR6752 AIP TMEM134
esv2422195 Chr.11:67466851 - 67859430 on Build GRCh38 Duplication DOC2GP NDUFV1 C11orf72 ACY3 CABP2 TBX10 ALDH3B2 GSTP1 CDK2AP2 AIP NUDT8 TMEM134 FAM86C2P PITPNM1 MIR6752
dgv1977n54 Chr.11:67397024 - 67521123 on Build GRCh38 Loss CARNS1 CABP2 GPR152 RPS6KB2 CDK2AP2 AIP TMEM134 CORO1B RAD9A PPP1CA CABP4 PTPRCAP PITPNM1 MIR6752 TBC1D10C
dgv52n111 Chr.11:67362651 - 67521123 on Build GRCh38 Deletion CARNS1 LOC100130987 CABP2 GPR152 RPS6KB2 CDK2AP2 AIP TMEM134 CORO1B RAD9A PPP1CA CABP4 PTPRCAP PITPNM1 CLCF1 MIR6752 TBC1D10C
nsv368 Chr.11:67479842 - 67509866 on Build GRCh38 Insertion PITPNM1 CDK2AP2 MIR6752 AIP
nsv521723 Chr.11:67408221 - 67543787 on Build GRCh38 Loss CARNS1 CABP2 GPR152 RPS6KB2 CDK2AP2 AIP TMEM134 CORO1B CABP4 PTPRCAP PITPNM1 MIR6752 TBC1D10C
nsv527056 Chr.11:67439955 - 67526837 on Build GRCh38 Loss CORO1B CABP4 CABP2 GPR152 PITPNM1 CDK2AP2 MIR6752 AIP TMEM134

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