Hs01795424_cn

• Gene Symbol: MFSD2A
• Assay Reference Genome Location: Chr.1:39969696 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: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MFSD2A	NM_001136493.2	14	1941	NP_001129965.1
	NM_001287808.1	12	1642	NP_001274737.1
	NM_001287809.1	14	1785	NP_001274738.1
	NM_032793.4	14	1902	NP_116182.2
	NR_109896.1	12	1705
	XM_005271285.1	14	1866	XP_005271342.1
	XM_011542312.2	13	1785	XP_011540614.1
	AB073383.1	14	1866	BAD38634.1
	AF289609.1	14	1858	AAL55793.1
	AF370364.1	9	2162	AAQ15200.1
	AK074186.1	14	1807
	AK075183.1	14	1869	BAC11456.1
	AK093223.1	14	1903	BAC04100.1
	AK297991.1	14	1749
	AL834184.1	12	1659
	AY358636.1	14	1884	AAQ88999.1
	BC006353.2	10	1237	AAH06353.2
	BC011587.1	14	1876	AAH11587.1
	BC092414.1	14	1844	AAH92414.1
	DB376308.1	1	263

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 OXCT2 PPIE RLF LOC101929536 MYCL CAP1 PPT1 BMP8B TRIT1

More Information

• Set Membership: Intragenic, 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