Product Details

Assay Reference Genome
Location

Chr.11:62692391 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
Overlaps Intron 8 - Exon 8
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NM_001122955.3 NP_001116427.1
NM_001130702.2 NP_001124174.2
NM_032667.6 NP_116056.3
NR_037948.1
NR_037949.1
AF052149.1
AK027524.1 BAB55175.1
AK075317.1 BAC11543.1
AK223606.1 BAD97326.1
AK225029.1
AK315423.1
BC004911.2 AAH04911.1
BC012140.1 AAH12140.1
BC041640.1 AAH41640.1
BC093048.1 AAH93048.1
DQ575792.1
KU178595.1
KU178596.1
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
Overlaps Intron 19 - Exon 19
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1
AK122942.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv832182 Chr11:62528103 - 62695376 on Build GRCh38 Gain+Loss MIR6747 INTS5 LBHD1 C11orf98 MTA2 B3GAT3 HNRNPUL2-BSCL2 TUT1 UQCC3 AHNAK BSCL2 EEF1G METTL12 GANAB SNORA57 LRRN4CL ROM1 EML3 UBXN1
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain MIR6747 INTS5 LBHD1 C11orf98 MTA2 B3GAT3 HNRNPUL2-BSCL2 TUT1 UQCC3 GNG3 BSCL2 EEF1G METTL12 HNRNPUL2 GANAB SNORA57 LRRN4CL ROM1 TTC9C EML3 UBXN1

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