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

Chr.19:799846 on build GRCh38
Cytoband
19p13.3
Assay ID Hs04486444_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 PTBP1 MIR4745
dgv134n111 Chr.19:607984 - 967584 on Build GRCh38 Deletion HCN2 ARID3A PRTN3 PTBP1 LOC101928450 POLRMT PRSS57 CFD RNF126 R3HDM4 PALM MED16 PLPPR3 ELANE FGF22 KISS1R MIR3187 AZU1 FSTL3 MISP MIR4745 RNU6-9
nsv828353 Chr.19:775335 - 812296 on Build GRCh38 Loss PTBP1 LOC101928450 MIR4745
esv3893155 Chr.19:725939 - 804013 on Build GRCh38 Gain PALM PTBP1 LOC101928450 MISP
nsv828354 Chr.19:796933 - 815173 on Build GRCh38 Gain PLPPR3 MIR3187 PTBP1 MIR4745
nsv458321 Chr.19:797079 - 850574 on Build GRCh38 Loss PLPPR3 MIR3187 AZU1 PRTN3 PTBP1 MIR4745
nsv953938 Chr.19:355801 - 1104501 on Build GRCh38 Deletion MADCAM1 C2CD4C GZMM PTBP1 RNF126 LOC105372235 R3HDM4 GRIN3B SHC2 BSG PLPPR3 ELANE KISS1R AZU1 MISP ABCA7 ARHGAP45 MIR4745 RNU6-9 HCN2 ARID3A WDR18 TPGS1 TMEM259 PRTN3 LOC101928450 RNU6-2 CDC34 POLRMT PRSS57 CFD ODF3L2 POLR2E THEG PALM MED16 FGF22 MIR3187 FSTL3 CNN2 GPX4
nsv470101 Chr.19:401714 - 1008505 on Build GRCh38 Loss MADCAM1 C2CD4C GZMM PTBP1 RNF126 LOC105372235 R3HDM4 GRIN3B SHC2 BSG PLPPR3 ELANE KISS1R AZU1 MISP MIR4745 RNU6-9 HCN2 ARID3A WDR18 TPGS1 PRTN3 LOC101928450 CDC34 POLRMT PRSS57 CFD ODF3L2 PALM MED16 FGF22 MIR3187 FSTL3
esv3643364 Chr.19:724133 - 803706 on Build GRCh38 Gain PALM PTBP1 LOC101928450 MISP

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More Information


Additional Information:

For this assay, SNP(s) [rs112750305] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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