Product Details

SNP ID

rs199475670

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:102840444 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTTAAGCTGCTGGGTATTGTCC[G/A]AGACCTCAATCCTTTGGGTGTATGG

Phenotype

MIM: 612349

Polymorphism

G/A, 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	1743	Missense Mutation	TCG,TTG	S424L	NP_000268.1
XM_017019370.1	1743	Intron			XP_016874859.1

View Full Product Details