Product Details

Assay Reference Genome
Location

Chr.11:62708379 on build GRCh38
Cytoband
11q12.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

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
Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NR_037948.1
NR_037949.1
AK315423.1
BP370169.1
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
Overlaps Exon 3 - Intron 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GNG3 NM_012202.4 NP_036334.1
XM_006718500.2 XP_006718563.1
AF075042.1
AF087900.1 AAP97199.1
AF092129.1 AAD40371.1
AF493871.1 AAM12585.1
AK311933.1
BC015563.2 AAH15563.1
CK004020.1
DA123305.1
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 HNRNPUL2 ZBTB3 TTC9C BSCL2 GNG3 HNRNPUL2-BSCL2
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain MTA2 HNRNPUL2 TUT1 UQCC3 ROM1 B3GAT3 HNRNPUL2-BSCL2 GANAB METTL12 EEF1G TTC9C INTS5 SNORA57 LBHD1 BSCL2 GNG3 MIR6747 EML3 C11orf98 UBXN1 LRRN4CL

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