Product Details

SNP ID
rs77323282
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:101402563 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGTGGCTCCATGCTGGGGCTG[C/G]CACACGCCTGCGACAGTGAGGAATT
Phenotype
Polymorphism
C/G, 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 1247 Missense Mutation GCC,GGC A373G NP_001139136.1
XM_011511771.2 1247 Missense Mutation GCC,GGC A449G XP_011510073.1
XM_011511772.1 1247 Missense Mutation GCC,GGC A444G XP_011510074.1
XM_011511773.1 1247 Missense Mutation GCC,GGC A343G XP_011510075.1
XM_011511776.1 1247 Missense Mutation GCC,GGC A277G XP_011510078.1
XM_011511777.1 1247 Missense Mutation GCC,GGC A277G XP_011510079.1
XM_011511778.1 1247 Missense Mutation GCC,GGC A277G XP_011510080.1
XM_017004851.1 1247 Missense Mutation GCC,GGC A486G XP_016860340.1
XM_017004852.1 1247 Missense Mutation GCC,GGC A415G XP_016860341.1
XM_017004853.1 1247 Intron XP_016860342.1
XM_017004854.1 1247 Intron XP_016860343.1

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