Hs04551789_cn

• Gene Symbol: ACTA1
• Assay Reference Genome Location: Chr.1:229433683 on build GRCh38
• Cytoband: 1q42.13

Target Gene Details

• Entrez Gene ID: 58
• Gene Name: actin, alpha 1, skeletal muscle
• Gene Aliases: ACTA, ASMA, CFTD, CFTD1, CFTDM, MPFD, NEM1, NEM2, NEM3, SHPM
• Location: Chr.1:229431245-229434096 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACTA1	NM_001100.3			NP_001091.1
	AK096902.1
	AK300697.1
	AL598491.1
	BC012597.1			AAH12597.1
	BX648545.1
	J00068.1			AAB59376.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv945360	Chr.1:229431230 - 229435274 on Build GRCh38	Duplication	ACTA1

More Information

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

Panther Classification:

Molecular Function -

actin and actin related protein, actin or actin-binding cytoskeletal protein, cytoskeletal protein

Gene Ontology Categories:

Process(es)

muscle contraction
response to mechanical stimulus
response to extracellular stimulus
response to lithium ion
positive regulation of gene expression
cell growth
muscle filament sliding
skeletal muscle thin filament assembly
skeletal muscle fiber adaptation
response to steroid hormone
skeletal muscle fiber development
mesenchyme migration

Function(s)

structural constituent of cytoskeleton
protein binding
ATP binding
myosin binding
ADP binding