Product Details

Assay Reference Genome
Location

Chr.11:62707253 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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NM_001122955.3 1 455 NP_001116427.1
NR_037948.1 2 545
NR_037949.1 2 545
AF052149.1 1 95
AK223606.1 1 146 BAD97326.1
AK315423.1 2 462
BC093048.1 AAH93048.1
BG699373.1 1 465
BP370169.1 2 544
DB178846.1 1 476
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 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
GNG3 XM_006718500.2 XP_006718563.1
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 Exon 14
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1 14 2463
AK122942.1 14 2463
CN346952.1 2 167

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 ZBTB3 HNRNPUL2 BSCL2 HNRNPUL2-BSCL2 TTC9C GNG3
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain ROM1 HNRNPUL2 INTS5 UQCC3 BSCL2 MIR6747 MTA2 HNRNPUL2-BSCL2 EML3 GNG3 SNORA57 LRRN4CL EEF1G LBHD1 GANAB METTL12 C11orf98 UBXN1 TTC9C TUT1 B3GAT3

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