Hs00295778_cn

• Gene Symbol: MFSD2A
• Assay Reference Genome Location: Chr.1:39965491 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 84879
• Gene Name: major facilitator superfamily domain containing 2A
• Gene Aliases: MCPH15, MFSD2, NLS1
• Location: Chr.1:39955112-39969968 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MFSD2A	NM_001136493.2			NP_001129965.1
	NM_001287808.1			NP_001274737.1
	NM_001287809.1			NP_001274738.1
	NM_032793.4			NP_116182.2
	NR_109896.1
	XM_005271285.1			XP_005271342.1
	XM_011542312.2			XP_011540614.1
	AB073383.1			BAD38634.1
	AF289609.1			AAL55793.1
	AF370364.1			AAQ15200.1
	AK074186.1
	AK075183.1			BAC11456.1
	AK093223.1			BAC04100.1
	AK291540.1
	AK297991.1
	AK301533.1
	AL834184.1
	AY358636.1			AAQ88999.1
	BC006353.2			AAH06353.2
	BC011587.1			AAH11587.1
	BC092414.1			AAH92414.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758933	Chr.1:39759471 - 40194760 on Build GRCh38	Loss	MFSD2A PPT1 LOC101929536 MYCL OXCT2 PPIE BMP8B RLF TRIT1 CAP1
nsv945896	Chr.1:39960837 - 39965664 on Build GRCh38	Duplication	MFSD2A

More Information

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

Gene Ontology Categories:

Process(es)

fatty acid transport
phospholipid transport
transcytosis
transmembrane transport
establishment of blood-brain barrier
lipid transport across blood brain barrier

Function(s)

phospholipid transporter activity
symporter activity