Product Details

Assay Reference Genome
Location

Chr.11:62702565 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 4 - Exon 5
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
BM763152.1
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 15 - Exon 16
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
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain C11orf98 MIR6747 METTL12 ROM1 B3GAT3 EEF1G UBXN1 HNRNPUL2 LRRN4CL TUT1 EML3 GNG3 UQCC3 LBHD1 BSCL2 MTA2 HNRNPUL2-BSCL2 INTS5 SNORA57 TTC9C GANAB

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