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See other BLOC1S5 CNV Assays ›
Gene Symbol
BLOC1S5
Assay Reference Genome
Location

Chr.6:8015021 on build GRCh38
Cytoband
6p24.3
Assay ID Hs02824644_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 63915

Gene Name:

 biogenesis of lysosomal organelles complex 1 subunit 5

Gene Aliases:

 BLOS5, MU, MUTED

Location:

 Chr.6:8013567-8064414 on Build GRCh38

Assay Gene Location:

 Within Exon 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BLOC1S5 NM_001199322.1 6 1333 NP_001186251.1
NM_001199323.1 4 1100 NP_001186252.1
NM_201280.2 5 1230 NP_958437.1
AF426434.1 5 1230 AAL99385.1
AK025442.1 5 1183
AK301142.1
BC032438.1 5 1193 AAH32438.1
BC119644.1
BC119645.1
BX647336.1 6 1402
CR749569.1 5 1205 CAH18364.1

Target Gene Details

Entrez Gene ID:

 100526836

Gene Name:

 BLOC1S5-TXNDC5 readthrough (NMD candidate)

Gene Aliases:

 MUTED-TXNDC5

Location:

 Chr.6:7881250-8064414 on Build GRCh38

Assay Gene Location:

 Within Intron 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BLOC1S5-TXNDC5 NR_037616.1
BC052310.1 AAH52310.1

Target Gene Details

Entrez Gene ID:

 100526837

Gene Name:

 EEF1E1-BLOC1S5 readthrough (NMD candidate)

Gene Aliases:

 EEF1E1-MUTED

Location:

 Chr.6:8013567-8102595 on Build GRCh38

Assay Gene Location:

 Within Exon 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
EEF1E1-BLOC1S5 NR_037618.1 7 1538

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv600924 Chr.6:7823346 - 8206902 on Build GRCh38 Gain BMP6 EEF1E1-BLOC1S5 EEF1E1 SCARNA27 BLOC1S5-TXNDC5 PIP5K1P1 TXNDC5 BLOC1S5
esv2731544 Chr.6:7817430 - 8348230 on Build GRCh38 Deletion BMP6 EEF1E1-BLOC1S5 EEF1E1 SCARNA27 BLOC1S5-TXNDC5 PIP5K1P1 TXNDC5 BLOC1S5
esv3576096 Chr.6:7993744 - 8022398 on Build GRCh38 Gain EEF1E1-BLOC1S5 BLOC1S5-TXNDC5 BLOC1S5

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More Information


Additional Information:

For this assay, SNP(s) [rs115866918] 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 Exonic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Function(s) Process(es)


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