Product Details

SNP ID
rs200569884
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:99691134 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAAAAGGATGAGGTTGGTGGCC[A/G]TGTGCTCCAAGATGTGTTTTTGGAT
Phenotype
MIM: 604087
Polymorphism
A/G, 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_006668.1 329 Missense Mutation CAT,CGT H58R NP_006659.1
XM_005267274.4 329 Intron XP_005267331.1
XM_011536364.1 329 Missense Mutation CAT,CGT H58R XP_011534666.1
XM_011536365.1 329 Intron XP_011534667.1
XM_017020933.1 329 Missense Mutation ATG,GTG M6V XP_016876422.1

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