Product Details

SNP ID
rs114175998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50090258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGCCACGAGGGAGCCGCGCCCAT[A/G]GGTCTTTGAGTGCAGTGCGGGCCGG
Phenotype
MIM: 605908 MIM: 605794
Polymorphism
A/G, Transition 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 3 Intron NP_001157576.1
NM_001164105.1 3 UTR 5 NP_001157577.1
NM_001164106.1 3 Intron NP_001157578.1
NM_018995.2 3 Intron NP_061868.1
XM_005261923.3 3 UTR 5 XP_005261980.1
XM_011530696.1 3 Intron XP_011528998.1
XM_011530697.1 3 UTR 5 XP_011528999.1
XM_011530698.1 3 Intron XP_011529000.1
XM_011530699.1 3 UTR 5 XP_011529001.1
XM_011530700.2 3 Intron XP_011529002.1
XM_011530701.1 3 Intron XP_011529003.1
XM_011530702.1 3 Intron XP_011529004.1
XM_011530703.1 3 Intron XP_011529005.1
XM_011530704.1 3 Intron XP_011529006.1
XM_017028833.1 3 Intron XP_016884322.1
XM_017028834.1 3 Intron XP_016884323.1
XM_017028835.1 3 Intron XP_016884324.1
XM_017028836.1 3 Intron XP_016884325.1
XM_017028837.1 3 Intron XP_016884326.1

View Full Product Details