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

Chr.19:798474 on build GRCh38
Cytoband
19p13.3
Assay ID Hs04014727_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 Exon 2
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 1 546 XP_005259654.1
XM_005259598.2 1 546 XP_005259655.1
AB208910.1 BAD92147.1
BC002397.2 AAH02397.1
BC004383.1 AAH04383.1
BC013694.1 AAH13694.1
BQ068293.1
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
esv3643371 Chr.19:794878 - 807625 on Build GRCh38 Loss PTBP1 MIR4745
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion PALM LOC101928450 KISS1R POLRMT RNU6-9 MED16 MIR3187 ELANE MISP MIR4745 PRTN3 PRSS57 AZU1 HCN2 CFD FSTL3 PLPPR3 PTBP1 FGF22 ARID3A RNF126 R3HDM4
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss LOC101928450 PTBP1 MIR4745
esv3893155 Chr.19:725939 - 804013 on Build GRCh38 Gain PALM LOC101928450 PTBP1 MISP
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain PLPPR3 PTBP1 MIR3187 MIR4745
nsv458321 Chr.19:797079 - 850574 on Build GRCh38 Loss AZU1 PLPPR3 PTBP1 MIR3187 MIR4745 PRTN3
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion THEG ODF3L2 SHC2 LOC101928450 ABCA7 GRIN3B POLRMT RNU6-9 MADCAM1 MIR3187 ARHGAP45 WDR18 MISP PRTN3 PRSS57 TPGS1 AZU1 HCN2 CDC34 CNN2 GZMM FSTL3 PLPPR3 RNF126 R3HDM4 TMEM259 LOC105372235 PALM KISS1R BSG MED16 GPX4 ELANE MIR4745 POLR2E CFD RNU6-2 PTBP1 FGF22 C2CD4C ARID3A
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss ODF3L2 SHC2 LOC101928450 GRIN3B POLRMT RNU6-9 MADCAM1 MIR3187 WDR18 MISP PRTN3 PRSS57 TPGS1 AZU1 HCN2 CDC34 GZMM FSTL3 PLPPR3 RNF126 R3HDM4 LOC105372235 PALM KISS1R BSG MED16 ELANE MIR4745 CFD PTBP1 FGF22 C2CD4C ARID3A
esv3643364 Chr.19:724133 - 803706 on Build GRCh38 Gain PALM LOC101928450 PTBP1 MISP

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