Product Details

SNP ID
rs200861245
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:3857638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTGGCATTGTGTCTTCCAGGAT[C/T]GACTGCGGGCCACCTGCACACTCTC
Phenotype
MIM: 609676
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAVS PubMed Links

Gene Details

Gene
MAVS
Gene Name
mitochondrial antiviral signaling protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206491.1 293 Intron NP_001193420.1
NM_020746.4 293 Nonsense Mutation CGA,TGA R41* NP_065797.2

View Full Product Details