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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
esv3643371 Chr.19:794878 - 807625 on Build GRCh38 Loss MIR4745 PTBP1
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion RNU6-9 LOC101928450 R3HDM4 MIR4745 KISS1R CFD FSTL3 PALM RNF126 AZU1 PLPPR3 MED16 MIR3187 FGF22 ELANE POLRMT MISP HCN2 PTBP1 PRSS57 ARID3A PRTN3
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss LOC101928450 MIR4745 PTBP1
esv3893155 Chr.19:725939 - 804013 on Build GRCh38 Gain LOC101928450 MISP PTBP1 PALM
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain PLPPR3 MIR3187 MIR4745 PTBP1
nsv458321 Chr.19:797079 - 850574 on Build GRCh38 Loss AZU1 PLPPR3 MIR3187 MIR4745 PTBP1 PRTN3
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion ABCA7 RNU6-9 LOC101928450 GRIN3B GZMM KISS1R THEG CFD CDC34 PALM ODF3L2 ARHGAP45 POLR2E MADCAM1 RNF126 PLPPR3 TMEM259 TPGS1 BSG GPX4 ELANE POLRMT PRSS57 C2CD4C ARID3A WDR18 LOC105372235 R3HDM4 MIR4745 CNN2 FSTL3 AZU1 MED16 MIR3187 FGF22 MISP HCN2 SHC2 PTBP1 PRTN3 RNU6-2
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss RNU6-9 LOC101928450 GRIN3B GZMM KISS1R CFD CDC34 PALM ODF3L2 MADCAM1 RNF126 PLPPR3 TPGS1 BSG ELANE POLRMT PRSS57 C2CD4C ARID3A WDR18 LOC105372235 R3HDM4 MIR4745 FSTL3 AZU1 MED16 MIR3187 FGF22 MISP HCN2 SHC2 PTBP1 PRTN3
esv3643364 Chr.19:724133 - 803706 on Build GRCh38 Gain LOC101928450 MISP PTBP1 PALM

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