Product Details

SNP ID
rs79223800
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101402564 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGTGGCTCCATGCTGGGGCTGG[A/C]ACACGCCTGCGACAGTGAGGAATTC
Phenotype
Polymorphism
A/C, Transversion 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 1246 Missense Mutation GCC,TCC A373S NP_001139136.1
XM_011511771.2 1246 Missense Mutation GCC,TCC A449S XP_011510073.1
XM_011511772.1 1246 Missense Mutation GCC,TCC A444S XP_011510074.1
XM_011511773.1 1246 Missense Mutation GCC,TCC A343S XP_011510075.1
XM_011511776.1 1246 Missense Mutation GCC,TCC A277S XP_011510078.1
XM_011511777.1 1246 Missense Mutation GCC,TCC A277S XP_011510079.1
XM_011511778.1 1246 Missense Mutation GCC,TCC A277S XP_011510080.1
XM_017004851.1 1246 Missense Mutation GCC,TCC A486S XP_016860340.1
XM_017004852.1 1246 Missense Mutation GCC,TCC A415S XP_016860341.1
XM_017004853.1 1246 Intron XP_016860342.1
XM_017004854.1 1246 Intron XP_016860343.1

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