Product Details

SNP ID
rs117260874
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101402621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAAAGTGCCTGGTCTGGCTGGC[C/T]GAGAGTCGGGTCATCTGGTAGCATT
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 1189 Missense Mutation AGC,GGC S354G NP_001139136.1
XM_011511771.2 1189 Missense Mutation AGC,GGC S430G XP_011510073.1
XM_011511772.1 1189 Missense Mutation AGC,GGC S425G XP_011510074.1
XM_011511773.1 1189 Missense Mutation AGC,GGC S324G XP_011510075.1
XM_011511776.1 1189 Missense Mutation AGC,GGC S258G XP_011510078.1
XM_011511777.1 1189 Missense Mutation AGC,GGC S258G XP_011510079.1
XM_011511778.1 1189 Missense Mutation AGC,GGC S258G XP_011510080.1
XM_017004851.1 1189 Missense Mutation AGC,GGC S467G XP_016860340.1
XM_017004852.1 1189 Missense Mutation AGC,GGC S396G XP_016860341.1
XM_017004853.1 1189 Intron XP_016860342.1
XM_017004854.1 1189 Intron XP_016860343.1

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