accessibility menu, dialog, popup

UserName
Viewing profile as user:

Please enter the information below and press OK to send your cart to Core Services for purchase.

    

System Message

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

Chr.19:799039 on build GRCh38
Cytoband
19p13.3
Assay ID Hs04029403_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

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

Back To Top

More Information


Additional Information:

For this assay, SNP(s) [rs77100342] 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)


Back To Top

Related Products