Hs03480503_cn

• Gene Symbol: NBEAL2
• Assay Reference Genome Location: Chr.3:46991594 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 23218
• Gene Name: neurobeachin like 2
• Gene Aliases: BDPLT4, GPS
• Location: Chr.3:46979683-47009704 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NBEAL2	NM_015175.2	8	1010	NP_055990.1
	XM_006713072.3	8	1007	XP_006713135.1
	XM_011533533.2	8	1007	XP_011531835.1
	XM_017006010.1	8	1007	XP_016861499.1
	XM_017006011.1	8	863	XP_016861500.1
	XM_017006012.1	8	1007	XP_016861501.1
	XM_017006013.1	8	1007	XP_016861502.1
	XM_017006014.1	8	863	XP_016861503.1
	XM_017006015.1			XP_016861504.1
	XM_017006016.1	3	1584	XP_016861505.1
	AK092871.1	8	864	BAC03994.1
	AK131104.1	8	850

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954479	Chr.3:46975211 - 47013210 on Build GRCh38	Deletion	NRADDP CCDC12 NBEAL2
nsv590209	Chr.3:46976724 - 47009294 on Build GRCh38	Loss	CCDC12 NBEAL2
nsv428417	Chr.3:46638962 - 47778557 on Build GRCh38	Loss	PRSS45 CSPG5 SMARCC1 PRSS50 PRSS46 PRSS42 ALS2CL SETD2 KLHL18 KIF9 NRADDP SCAP KIF9-AS1 SNORD13P3 PTPN23 ELP6 PRSS43 CCDC12 TMIE PTH1R NBEAL2 MYL3
esv3596073	Chr.3:46936296 - 47131646 on Build GRCh38	Loss	NRADDP SETD2 CCDC12 NBEAL2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

platelet formation

Function(s)

phospholipid binding