Product Details

Assay Reference Genome Location: Chr.11:62705630 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 3 - 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
	BG699373.1
	BM763152.1

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 14 - Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
HNRNPUL2-BSCL2	NR_037946.1
	AK122942.1
	CN346952.1

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	EEF1G HNRNPUL2-BSCL2 HNRNPUL2 C11orf98 LRRN4CL B3GAT3 GANAB INTS5 BSCL2 GNG3 MTA2 EML3 TTC9C UBXN1 TUT1 ROM1 METTL12 LBHD1 MIR6747 UQCC3 SNORA57

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