Product Details

SNP ID
rs141032633
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:99691798 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCAGGGCTAAGAAGTATGGACC[C/T]GTTGTGCGGGTCAACGTCTTCCACA
Phenotype
MIM: 604087
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CYP46A1 PubMed Links

Gene Details

Gene
CYP46A1
Gene Name
cytochrome P450 family 46 subfamily A member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006668.1 375 Silent Mutation CCC,CCT P73P NP_006659.1
XM_005267274.4 375 Intron XP_005267331.1
XM_011536364.1 375 Silent Mutation CCC,CCT P73P XP_011534666.1
XM_011536365.1 375 Intron XP_011534667.1
XM_017020933.1 375 Missense Mutation CCG,CTG P21L XP_016876422.1

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