Hs05575304_cn

• Gene Symbol: BCL2L13
• Assay Reference Genome Location: Chr.22:17637764 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 23786
• Gene Name: BCL2 like 13
• Gene Aliases: BCL-RAMBO, Bcl2-L-13, MIL1
• Location: Chr.22:17628855-17730855 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2L13	XM_011546119.1			XP_011544421.1
	XM_011546120.1			XP_011544422.1
	XM_011546121.2			XP_011544423.1
	XM_017028725.1			XP_016884214.1
	XM_017028726.1			XP_016884215.1
	XM_017028728.1			XP_016884217.1
	XM_017028731.1			XP_016884220.1
	XM_017028734.1			XP_016884223.1
	AF246665.1			AAK15150.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv9871	Chr.22:17545048 - 17683541 on Build GRCh38	Loss	CECR2 ATP6V1E1 SLC25A18 LOC101929372 BCL2L13
nsv526826	Chr.22:17411511 - 17836413 on Build GRCh38	Gain	CECR2 MIR3198-1 ATP6V1E1 SLC25A18 BID LOC101929372 LINC00528 BCL2L13 MICAL3
esv3893429	Chr.22:17600825 - 17678777 on Build GRCh38	Gain	ATP6V1E1 BCL2L13
esv3893428	Chr.22:17578563 - 18040448 on Build GRCh38	Loss	MIR3198-1 ATP6V1E1 FLJ41941 SLC25A18 BID LOC101929372 LINC00528 BCL2L13 MIR648 MICAL3
dgv4465n100	Chr.22:17577691 - 17706530 on Build GRCh38	Gain	ATP6V1E1 SLC25A18 LOC101929372 BCL2L13
nsv428385	Chr.22:17491941 - 18886703 on Build GRCh38	Gain+Loss	SLC25A18 LINC00528 LOC100996401 USP18 TMEM191B PI4KAP1 BID PEX26 LOC100996415 MIR648 LOC729461 FLJ41941 LOC100996432 BCL2L13 LOC102725072 LOC642643 CECR2 MIR3198-1 ATP6V1E1 LOC101929372 RIMBP3 GGT3P FAM230A MICAL3 TUBA8

More Information

Additional Information:

For this assay, SNP(s) [rs139504598] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process

Function(s)

protein binding
cysteine-type endopeptidase activator activity involved in apoptotic process