Product Details

Assay Reference Genome
Location

Chr.11:62707679 on build GRCh38
Cytoband
11q12.3
Species
Homo sapiens
Variation Type
Copy Number

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.

Target Gene Details

Entrez Gene ID
26580
Gene Symbol
BSCL2
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 Location Protein ID
BSCL2 NM_001122955.3 NP_001116427.1
NR_037948.1
NR_037949.1
AK315423.1
BG699373.1
BP370169.1
DB178846.1
Entrez Gene ID
2785
Gene Symbol
GNG3
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 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
Entrez Gene ID
100534595
Gene Symbol
HNRNPUL2-BSCL2
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 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 Chr11:62706978 - 62752240 on Build GRCh38 Deletion TTC9C BSCL2 ZBTB3 HNRNPUL2-BSCL2 HNRNPUL2 GNG3
nsv555174 Chr11:62566624 - 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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