Product Details

SNP ID
rs111429443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101402476 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGTCCACCAGGAAGCCCAGGATC[C/T]TGAGGACCATGTTGCTCACACCCAC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RFX8 PubMed Links

Gene Details

Gene
RFX8
Gene Name
RFX family member 8, lacking RFX DNA binding domain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145664.1 1334 Missense Mutation AAG,AGG K402R NP_001139136.1
XM_011511771.2 1334 Missense Mutation AAG,AGG K478R XP_011510073.1
XM_011511772.1 1334 Missense Mutation AAG,AGG K473R XP_011510074.1
XM_011511773.1 1334 Missense Mutation AAG,AGG K372R XP_011510075.1
XM_011511776.1 1334 Missense Mutation AAG,AGG K306R XP_011510078.1
XM_011511777.1 1334 Missense Mutation AAG,AGG K306R XP_011510079.1
XM_011511778.1 1334 Missense Mutation AAG,AGG K306R XP_011510080.1
XM_017004851.1 1334 Missense Mutation AAG,AGG K515R XP_016860340.1
XM_017004852.1 1334 Missense Mutation AAG,AGG K444R XP_016860341.1
XM_017004853.1 1334 Intron XP_016860342.1
XM_017004854.1 1334 Intron XP_016860343.1

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