Product Details

SNP ID

rs146070249

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:50092025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGACACTAAGCTGAAAACTGTAC[C/G]GGGTGTCGTGACAAGGTACTGCAGC

Phenotype

MIM: 605908 MIM: 605794

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MLC1 PubMed Links

Gene Details

Gene

MLC1

Gene Name

megalencephalic leukoencephalopathy with subcortical cysts 1

There are no transcripts associated with this gene.

Gene

MOV10L1

Gene Name

Mov10 RISC complex RNA helicase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164104.1	205	Missense Mutation	CCG,CGG	P41R	NP_001157576.1
NM_001164105.1	205	Missense Mutation	CCG,CGG	P21R	NP_001157577.1
NM_001164106.1	205	Intron			NP_001157578.1
NM_018995.2	205	Missense Mutation	CCG,CGG	P41R	NP_061868.1
XM_005261923.3	205	Missense Mutation	CCG,CGG	P21R	XP_005261980.1
XM_011530696.1	205	Missense Mutation	CCG,CGG	P41R	XP_011528998.1
XM_011530697.1	205	Missense Mutation	CCG,CGG	P21R	XP_011528999.1
XM_011530698.1	205	Missense Mutation	CCG,CGG	P41R	XP_011529000.1
XM_011530699.1	205	UTR 5			XP_011529001.1
XM_011530700.2	205	UTR 5			XP_011529002.1
XM_011530701.1	205	Missense Mutation	CCG,CGG	P41R	XP_011529003.1
XM_011530702.1	205	UTR 5			XP_011529004.1
XM_011530703.1	205	Intron			XP_011529005.1
XM_011530704.1	205	Missense Mutation	CCG,CGG	P41R	XP_011529006.1
XM_017028833.1	205	Missense Mutation	CCG,CGG	P41R	XP_016884322.1
XM_017028834.1	205	Missense Mutation	CCG,CGG	P41R	XP_016884323.1
XM_017028835.1	205	Intron			XP_016884324.1
XM_017028836.1	205	Intron			XP_016884325.1
XM_017028837.1	205	Missense Mutation	CCG,CGG	P41R	XP_016884326.1

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