Product Details

SNP ID
rs72923500
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:48375429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACAGGAGAAATCAATCATTTGTA[A/G]TGTATCTCCAAAGCAAGAGCTTTGT
Phenotype
MIM: 609075
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FBXW12 PubMed Links

Gene Details

Gene
FBXW12
Gene Name
F-box and WD repeat domain containing 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159927.1 374 Missense Mutation AAT,AGT N121S NP_001153399.1
NM_001159929.1 374 Missense Mutation AAT,AGT N102S NP_001153401.1
NM_207102.2 374 Missense Mutation AAT,AGT N121S NP_996985.2
XM_017006224.1 374 Missense Mutation AAT,AGT N121S XP_016861713.1

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