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System Message

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Gene Symbol: ACTN2
Assay Reference Genome Location: Chr.1:236709622 on build GRCh38
Cytoband: 1q43

Assay ID

Hs03366909_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:	88
Gene Name:	actinin alpha 2
Gene Aliases:	CMD1AA, CMH23
Location:	Chr.1:236686454-236764631 on Build GRCh38
Assay Gene Location:	Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACTN2	NM_001103.3			NP_001094.1
	NM_001278343.1			NP_001265272.1
	NM_001278344.1			NP_001265273.1
	AB209521.1			BAD92758.1
	AK297886.1
	AK315250.1
	BC047901.2			AAH47901.2
	BC051770.1			AAH51770.2
	DC378038.1
	M86406.1			AAA51583.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1005877	Chr.1:235912335 - 237038508 on Build GRCh38	Gain	HEATR1 LGALS8 GPR137B NID1 ERO1B MT1HL1 EDARADD MTR LGALS8-AS1 ACTN2
esv2763410	Chr.1:236334208 - 236735742 on Build GRCh38	Gain	HEATR1 LGALS8 EDARADD LGALS8-AS1 ACTN2
nsv4988	Chr.1:236699164 - 236760383 on Build GRCh38	Insertion	ACTN2
esv2759006	Chr.1:236703536 - 236739064 on Build GRCh38	Loss	ACTN2

More Information

Set Membership:

Intragenic

Intronic

Non-exonic

DGV Variation

Gene Ontology Categories:

Function(s) Process(es)

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