Hs00318772_cn

• Gene Symbol: MCFD2
• Assay Reference Genome Location: Chr.2:46907980 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 90411
• Gene Name: multiple coagulation factor deficiency 2
• Gene Aliases: F5F8D, F5F8D2, LMAN1IP, SDNSF
• Location: Chr.2:46901870-46941855 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCFD2	NM_001171506.2			NP_001164977.1
	NM_001171507.2			NP_001164978.1
	NM_001171508.2			NP_001164979.1
	NM_001171509.2			NP_001164980.1
	NM_001171510.2			NP_001164981.1
	NM_001171511.2			NP_001164982.1
	NM_139279.5			NP_644808.1
	AF475284.1			AAM28465.1
	AF537214.1			AAP23162.1
	AK292127.1
	AK293889.1
	AL833900.1			CAD38756.1
	BC037845.1			AAH37845.1
	BC040357.2			AAH40357.1
	BI553070.1
	CF994192.1
	CR749562.1			CAH18359.1
	DA194356.1
	DA226366.1
	DA324623.1
	DA330030.1
	DA404031.1
	DA412975.1
	DB096245.1
	DC321899.1
	DC332658.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004828	Chr.2:46829710 - 47587343 on Build GRCh38	Gain	MIR559 MSH2 TTC7A CALM2 C2orf61 EPCAM HCG2040054 KCNK12 LINC01119 MCFD2 LOC101927043 BCYRN1
nsv581749	Chr.2:46777649 - 47098834 on Build GRCh38	Loss	TTC7A LINC01118 C2orf61 LINC01119 LOC105374587 MCFD2

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

ER to Golgi vesicle-mediated transport
protein transport
protein N-linked glycosylation via asparagine
COPII vesicle coating

Function(s)

calcium ion binding