Product Details

SNP ID

rs76542238

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:102839194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCTTTACTTTATTTTCTGGAGG[G/T]CACTGCAAAGGATTCCAATTTCACC

Phenotype

MIM: 612349

Polymorphism

G/T, Transversion 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	1812	Missense Mutation	GAC,GCC	D447A	NP_000268.1
XM_017019370.1	1812	Intron			XP_016874859.1

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