Hs02341700_cn

• Gene Symbol: MYOF
• Assay Reference Genome Location: Chr.10:93328854 on build GRCh38
• Cytoband: 10q23.33

Target Gene Details

• Entrez Gene ID: 26509
• Gene Name: myoferlin
• Gene Aliases: FER1L3
• Location: Chr.10:93306429-93482504 on Build GRCh38
• Assay Gene Location: Within Exon 48

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYOF	NM_013451.3	45	5163	NP_038479.1
	NM_133337.2	44	5124	NP_579899.1
	XM_005269693.4	46	5399	XP_005269750.1
	XM_005269694.4	45	5360	XP_005269751.1
	XM_011539632.2	47	5593	XP_011537934.1
	XM_017016068.1	45	4980	XP_016871557.1
	XM_017016069.1	45	5025	XP_016871558.1
	XM_017016070.1	46	5407	XP_016871559.1
	AB033033.2	45	5040	BAA86521.2
	AF182316.1	45	5136	AAF27176.1
	AF207990.1	44	5001	AAG23737.1
	AK075258.1	9	878
	AK093890.1	5	1144
	AL096713.1	26	3237	CAB46370.1
	BC052617.1			AAH52617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv7494	Chr.10:93316110 - 93351114 on Build GRCh38	Insertion	MYOF

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

plasma membrane repair
muscle contraction
blood circulation
regulation of vascular endothelial growth factor receptor signaling pathway
cellular response to heat

Function(s)

protein binding
phospholipid binding