Product Details

Assay Reference Genome
Location

Chr.11:62694611 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 6
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NM_001122955.3 4 1099 NP_001116427.1
NM_001130702.2 4 613 NP_001124174.2
NM_032667.6 4 613 NP_116056.3
NR_037948.1 5 1189
NR_037949.1 5 1189
AF052149.1 4 739
AK027524.1 4 613 BAB55175.1
AK075317.1 4 596 BAC11543.1
AK223606.1 4 790 BAD97326.1
AK225029.1 4 596
AK315423.1 5 1106
BC004911.2 4 592 AAH04911.1
BC012140.1 4 583 AAH12140.1
BC041640.1 4 565 AAH41640.1
BC093048.1 4 648 AAH93048.1
BM763152.1
KU178595.1 3 395
KU178596.1 2 313
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 17
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1 17 3107
AK122942.1 17 3107

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

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