Product Details

Assay Reference Genome Location: Chr.11:62705359 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 4

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 15

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
HNRNPUL2-BSCL2	NR_037946.1
HNRNPUL2-BSCL2	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	SNORA57 EML3 BSCL2 LBHD1 C11orf98 TTC9C LRRN4CL MIR6747 B3GAT3 GANAB ROM1 HNRNPUL2 MTA2 EEF1G HNRNPUL2-BSCL2 INTS5 TUT1 UBXN1 UQCC3 METTL12 GNG3

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