Product Details

SNP ID

rs1801152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:102840473 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCAATCCTTTGGGTGTATGGGTC[G/A]TAGCGAACTGAGAAGGGCCGAGGTA

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	1714	Silent Mutation	TAC,TAT	Y414Y	NP_000268.1
XM_017019370.1	1714	Intron			XP_016874859.1

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