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System Message

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Gene Symbol: ACVRL1
Assay Reference Genome Location: Chr.12:51915581 on build GRCh38
Cytoband: 12q13.13

Assay ID

Hs06342645_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:	94
Gene Name:	activin A receptor like type 1
Gene Aliases:	ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
Location:	Chr.12:51906913-51923361 on Build GRCh38
Assay Gene Location:	Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACVRL1	NM_000020.2			NP_000011.2
	NM_001077401.1			NP_001070869.1
	XM_005269235.2			XP_005269292.1
	XM_011539008.1			XP_011537310.1
	AK298493.1
	AK300619.1
	AK303331.1
	BC042637.1			AAH42637.1
	KU177888.1
	KU177889.1
	L17075.1			AAA16160.1
	Z22533.1			CAA80255.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv558895	Chr.12:51872564 - 51920604 on Build GRCh38	Loss	ANKRD33 ACVRL1
nsv523741	Chr.12:51910615 - 51920604 on Build GRCh38	Loss	ACVRL1
nsv707	Chr.12:51913177 - 51944329 on Build GRCh38	Insertion	ACVRL1
nsv527286	Chr.12:51892992 - 51920604 on Build GRCh38	Loss	ACVRL1

More Information

Set Membership:

Intragenic

Intronic

Non-exonic

DGV Variation

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Function(s) Process(es)

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