Product Details

Assay Reference Genome Location: Chr.11:62709119 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 1 - Exon 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: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
GNG3	NM_012202.4	3	864	NP_036334.1
	XM_006718500.2	4	851	XP_006718563.1
	AF075042.1	2	527
	AF087900.1	3	801	AAP97199.1
	AF092129.1	3	801	AAD40371.1
	BC015563.2	3	745	AAH15563.1

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

View Full Product Details