Product Details

SNP ID
rs379164
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:145507957 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGGAGACAGTGCCCCACTAGCTCCA[A/T]GGAACAGGAGGGAGGTGGACACCAC
Phenotype
MIM: 607566
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
EPM2A PubMed Links

Gene Details

Gene
EPM2A
Gene Name
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018041.1 Intron NP_001018051.1
NM_005670.3 Intron NP_005661.1
XM_006715564.3 Intron XP_006715627.1
XM_011536113.2 Intron XP_011534415.1
XM_011536116.1 Intron XP_011534418.1
XM_017011300.1 Intron XP_016866789.1
XM_017011301.1 Intron XP_016866790.1
XM_017011302.1 Intron XP_016866791.1

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