Hs02767298_cn

• Gene Symbol: MLC1
• Assay Reference Genome Location: Chr.22:50059359 on build GRCh38
• Cytoband: 22q13.33

Target Gene Details

• Entrez Gene ID: 23209
• Gene Name: megalencephalic leukoencephalopathy with subcortical cysts 1
• Gene Aliases: LVM, MLC, VL
• Location: Chr.22:50059391-50085929 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MLC1	NM_015166.3			NP_055981.1
	NM_139202.2			NP_631941.1
	XM_011530678.1			XP_011528980.1
	XM_017028671.1			XP_016884160.1
	AF319633.1			AAK60119.1
	AK124264.1
	BC028425.2			AAH28425.1
	BC070042.1			AAH70042.1
	BF513319.1
	D25217.3

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471222	Chr.22:50024802 - 50157413 on Build GRCh38	Gain	MOV10L1 MLC1 TTLL8

More Information

Additional Information:

For this assay, SNP(s) [rs79204578] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

transport
ion transport
protein transport
vesicle-mediated transport
positive regulation of intracellular transport
regulation of response to osmotic stress
protein oligomerization
cellular response to cholesterol
caveolin-mediated endocytosis

Function(s)

transporter activity
protein binding
protein transporter activity
protein complex binding