Hs03511769_cn

• Gene Symbol: MFSD8
• Assay Reference Genome Location: Chr.4:127926552 on build GRCh38
• Cytoband: 4q28.2

Target Gene Details

• Entrez Gene ID: 256471
• Gene Name: major facilitator superfamily domain containing 8
• Gene Aliases: CCMD, CLN7
• Location: Chr.4:127917805-127965984 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MFSD8	NM_152778.2			NP_689991.1
	XM_005262893.1			XP_005262950.1
	XM_005262896.1			XP_005262953.1
	XM_005262897.2			XP_005262954.1
	XM_005262898.2			XP_005262955.1
	XM_011531830.1			XP_011530132.1
	XM_011531831.1			XP_011530133.1
	XM_011531832.1			XP_011530134.1
	XM_017007989.1			XP_016863478.1
	AK074564.1			BAC11062.1
	AK294184.1
	AK294439.1
	AK294957.1
	AK315596.1
	BC029503.1			AAH29503.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv512834	Chr.4:127926201 - 127926776 on Build GRCh38	Insertion	MFSD8
dgv5385n100	Chr.4:127882004 - 128173863 on Build GRCh38	Gain	MFSD8 LARP1B PLK4 ABHD18
nsv1019193	Chr.4:127889372 - 128028165 on Build GRCh38	Loss	MFSD8 PLK4 ABHD18

More Information

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

Gene Ontology Categories:

Process(es)

lysosome organization
transmembrane transport