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See other BSCL2 CNV Assays ›
Gene Symbol
BSCL2
Assay Reference Genome
Location

Chr.11:62707679 on build GRCh38
Cytoband
11q12.3
Assay ID Hs00384005_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 26580

Gene Name:

 BSCL2, seipin lipid droplet biogenesis associated

Gene Aliases:

 GNG3LG, HMN5, PELD, SPG17

Location:

 Chr.11:62690262-62709619 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 1 - Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BSCL2 NM_001122955.3 NP_001116427.1
NR_037948.1
NR_037949.1
AK315423.1
BG699373.1
BP370169.1
DB178846.1

Target Gene Details

Entrez Gene ID:

 2785

Gene Name:

 G protein subunit gamma 3

Gene Aliases:

 -

Location:

 Chr.11:62707255-62709206 on Build GRCh38

Assay Gene Location:

 Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GNG3 NM_012202.4 1 86 NP_036334.1
XM_006718500.2 XP_006718563.1
AF087900.1 AAP97199.1
AF092129.1 AAD40371.1
AK311933.1
BC015563.2 AAH15563.1
CK004020.1
DA123305.1 1 86

Target Gene Details

Entrez Gene ID:

 100534595

Gene Name:

 HNRNPUL2-BSCL2 readthrough (NMD candidate)

Gene Aliases:

 -

Location:

 Chr.11:62690262-62727384 on Build GRCh38

Assay Gene Location:

 Within Intron 13
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1
AK122942.1
CN346952.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv348 Chr.11:62706978 - 62752240 on Build GRCh38 Deletion TTC9C BSCL2 ZBTB3 HNRNPUL2-BSCL2 HNRNPUL2 GNG3
nsv555174 Chr.11:62566624 - 62729047 on Build GRCh38 Gain BSCL2 ROM1 EEF1G METTL12 MTA2 HNRNPUL2 EML3 GNG3 UQCC3 B3GAT3 UBXN1 TTC9C C11orf98 HNRNPUL2-BSCL2 GANAB LBHD1 LRRN4CL INTS5 MIR6747 SNORA57 TUT1

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More Information


Additional Information:

For this assay, SNP(s) [rs142457418] 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 -

heterotrimeric G-protein

Gene Ontology Categories:

Function(s) Process(es)


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