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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
esv3643372 Chr.19:794878 - 807625 on Build GRCh38 Gain PTBP1 MIR4745
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion CFD PTBP1 MIR4745 AZU1 RNF126 MIR3187 RNU6-9 PRTN3 KISS1R FSTL3 ELANE ARID3A PRSS57 POLRMT PALM R3HDM4 PLPPR3 MISP LOC101928450 MED16 HCN2 FGF22
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss PTBP1 MIR4745 LOC101928450
nsv578167 Chr.19:797079 - 850574 on Build GRCh38 Loss PRTN3 PTBP1 MIR4745 AZU1 PLPPR3 MIR3187
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain PTBP1 MIR4745 PLPPR3 MIR3187
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion CDC34 C2CD4C PTBP1 MIR4745 AZU1 GZMM MIR3187 ODF3L2 GRIN3B WDR18 GPX4 KISS1R THEG SHC2 CNN2 MADCAM1 POLR2E LOC101928450 MED16 HCN2 CFD ABCA7 ARHGAP45 LOC105372235 RNF126 BSG TPGS1 RNU6-9 PRTN3 FSTL3 ELANE ARID3A PRSS57 POLRMT PALM R3HDM4 PLPPR3 MISP TMEM259 RNU6-2 FGF22
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss CDC34 C2CD4C PTBP1 MIR4745 AZU1 GZMM MIR3187 ODF3L2 GRIN3B WDR18 KISS1R SHC2 MADCAM1 LOC101928450 MED16 HCN2 CFD LOC105372235 RNF126 BSG TPGS1 RNU6-9 PRTN3 FSTL3 ELANE ARID3A PRSS57 POLRMT PALM R3HDM4 PLPPR3 MISP FGF22

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