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System Message

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Gene Symbol: NBEAL2
Assay Reference Genome Location: Chr.3:46983731 on build GRCh38
Cytoband: 3p21.31

Assay ID

Hs03468443_cn

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Availability	Made To Order
Catalog #	4400291
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Genomic Map
Assay Details
More Information

Assay Details

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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NBEAL2	NM_015175.2			NP_055990.1
	XM_006713072.3			XP_006713135.1
	XM_011533533.2			XP_011531835.1
	XM_017006010.1			XP_016861499.1
	XM_017006012.1			XP_016861501.1
	XM_017006013.1			XP_016861502.1
	XM_017006015.1			XP_016861504.1
	AK131104.1
	CR988681.1

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

More Information

Set Membership:

Intragenic

Intronic

Non-exonic

DGV Variation

Gene Ontology Categories:

Function(s) Process(es)

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