Product Details

Assay Reference Genome Location: Chr.11:62707875 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
BSCL2	NR_037948.1
	NR_037949.1
	AK315423.1
	BP370169.1

Entrez Gene ID: 2785
Gene Symbol: GNG3
Gene Name: G protein subunit gamma 3
Gene Aliases
Location: Chr.11:62707255-62709206 on build GRCh38
Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
GNG3	NM_012202.4			NP_036334.1
	XM_006718500.2			XP_006718563.1
	AF087900.1			AAP97199.1
	AF092129.1			AAD40371.1
	AK311933.1
	BC015563.2			AAH15563.1
	CK004020.1
	DA123305.1

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: Within Intron 13

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
nsv348	Chr11:62706978 - 62752240 on Build GRCh38	Deletion	HNRNPUL2-BSCL2 TTC9C GNG3 BSCL2 HNRNPUL2 ZBTB3
nsv555174	Chr11:62566624 - 62729047 on Build GRCh38	Gain	ROM1 INTS5 TTC9C GNG3 EEF1G BSCL2 HNRNPUL2 HNRNPUL2-BSCL2 B3GAT3 METTL12 MIR6747 SNORA57 C11orf98 GANAB UQCC3 LRRN4CL LBHD1 MTA2 TUT1 UBXN1 EML3

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