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See other PTBP1 CNV Assays ›
Gene Symbol
PTBP1
Assay Reference Genome
Location

Chr.19:802635 on build GRCh38
Cytoband
19p13.3
Assay ID Hs04022412_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 5725

Gene Name:

 polypyrimidine tract binding protein 1

Gene Aliases:

 HNRNP-I, HNRNPI, HNRPI, PTB, PTB-1, PTB-T, PTB2, PTB3, PTB4, pPTB

Location:

 Chr.19:797392-812327 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PTBP1 NM_002819.4 NP_002810.1
NM_031990.3 NP_114367.1
NM_031991.3 NP_114368.1
XM_005259597.2 XP_005259654.1
XM_005259598.2 XP_005259655.1
AB208910.1 BAD92147.1
BC002397.2 AAH02397.1
BC004383.1 AAH04383.1
BC013694.1 AAH13694.1
BQ068293.1
BT006819.1 AAP35465.1
X60648.1 CAA43056.1
X62006.1 CAA43973.1
X65371.1 CAA46443.1
X65372.1 CAA46444.1
X66975.1 CAA47386.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3643372 Chr.19:794878 - 807625 on Build GRCh38 Gain MIR4745 PTBP1
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion MISP RNU6-9 MED16 HCN2 AZU1 PALM PTBP1 PRSS57 MIR4745 R3HDM4 ELANE FGF22 RNF126 KISS1R FSTL3 PRTN3 POLRMT LOC101928450 MIR3187 CFD ARID3A PLPPR3
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss MIR4745 LOC101928450 PTBP1
nsv578167 Chr.19:797079 - 850574 on Build GRCh38 Loss MIR4745 PRTN3 AZU1 MIR3187 PLPPR3 PTBP1
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain MIR4745 MIR3187 PLPPR3 PTBP1
esv3893155 Chr.19:725939 - 804013 on Build GRCh38 Gain MISP LOC101928450 PALM PTBP1
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion MISP RNU6-9 WDR18 ODF3L2 THEG GZMM GPX4 AZU1 PALM PRSS57 R3HDM4 ABCA7 FGF22 LOC105372235 RNF126 GRIN3B SHC2 RNU6-2 PRTN3 LOC101928450 CNN2 CFD ARID3A C2CD4C MED16 POLR2E HCN2 PTBP1 TMEM259 MIR4745 ARHGAP45 ELANE CDC34 MADCAM1 KISS1R FSTL3 BSG TPGS1 POLRMT MIR3187 PLPPR3
esv3643364 Chr.19:724133 - 803706 on Build GRCh38 Gain MISP LOC101928450 PALM PTBP1
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss MISP RNU6-9 WDR18 ODF3L2 GZMM AZU1 PALM PRSS57 R3HDM4 FGF22 LOC105372235 RNF126 GRIN3B SHC2 PRTN3 LOC101928450 CFD ARID3A C2CD4C MED16 HCN2 PTBP1 MIR4745 ELANE CDC34 MADCAM1 KISS1R FSTL3 BSG TPGS1 POLRMT MIR3187 PLPPR3

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