Hs02749249_cn

• Gene Symbol: MYLPF
• Assay Reference Genome Location: Chr.16:30376420 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 29895
• Gene Name: myosin light chain, phosphorylatable, fast skeletal muscle
• Gene Aliases: HUMMLC2B, MLC2B, MRLC2, MYL11
• Location: Chr.16:30370934-30377991 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYLPF	NM_001324458.1			NP_001311387.1
	NM_001324459.1			NP_001311388.1
	NM_013292.4			NP_037424.2
	AF363061.1			AAK52797.1
	AK314082.1
	BC012571.1			AAH12571.1
	BI828249.1
	BI837593.1
	BX649054.1
	CR456963.1			CAG33244.1
	M21812.1			AAA91848.1
	X57543.1			CAA40762.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv827612	Chr.16:30360217 - 30418541 on Build GRCh38	Gain	LOC107983970 ZNF771 ZNF48 TBC1D10B MYLPF SEPT1

More Information

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

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

muscle contraction
immune response
skeletal muscle tissue development

Function(s)

calcium ion binding
structural constituent of muscle