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

Chr.19:805240 on build GRCh38
Cytoband
19p13.3
Assay ID Hs02490547_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 9
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 8 997 BAD92147.1
BC002397.2 AAH02397.1
BC004383.1 AAH04383.1
BC013694.1 AAH13694.1
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
esv3643371 Chr.19:794878 - 807625 on Build GRCh38 Loss MIR4745 PTBP1
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion CFD HCN2 MIR3187 FSTL3 PRSS57 R3HDM4 PTBP1 LOC101928450 PRTN3 ELANE FGF22 MIR4745 RNF126 ARID3A PALM MISP RNU6-9 MED16 KISS1R POLRMT AZU1 PLPPR3
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss MIR4745 PTBP1 LOC101928450
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain MIR4745 MIR3187 PTBP1 PLPPR3
nsv458321 Chr.19:797079 - 850574 on Build GRCh38 Loss MIR4745 MIR3187 PTBP1 PRTN3 AZU1 PLPPR3
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion CDC34 RNU6-2 HCN2 TMEM259 FSTL3 PRSS57 PTBP1 LOC101928450 RNF126 C2CD4C MADCAM1 GZMM MED16 THEG GPX4 PLPPR3 BSG ARHGAP45 CFD SHC2 ABCA7 MIR3187 R3HDM4 LOC105372235 TPGS1 CNN2 PRTN3 GRIN3B ELANE FGF22 MIR4745 ODF3L2 ARID3A PALM MISP RNU6-9 KISS1R POLR2E POLRMT AZU1 WDR18
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss CDC34 HCN2 FSTL3 PRSS57 PTBP1 LOC101928450 RNF126 C2CD4C MADCAM1 GZMM MED16 PLPPR3 BSG CFD SHC2 MIR3187 R3HDM4 LOC105372235 TPGS1 PRTN3 GRIN3B ELANE FGF22 MIR4745 ODF3L2 ARID3A PALM MISP RNU6-9 KISS1R POLRMT AZU1 WDR18

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