Product Details

SNP ID
rs148041893
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:102840445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTAAGCTGCTGGGTATTGTCCA[A/G]GACCTCAATCCTTTGGGTGTATGGG
Phenotype
MIM: 612349
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
PAH PubMed Links

Gene Details

Gene
PAH
Gene Name
phenylalanine hydroxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000277.1 1742 Silent Mutation CTG,TTG L424L NP_000268.1
XM_017019370.1 1742 Intron XP_016874859.1

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