Product Details

SNP ID

rs201305943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121843771 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGTCTTCAGCTTCTCCCGCAGT[G/T]GTTTGTAGTACGTGGAGGGAACAGA

Phenotype

MIM: 609695

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HPD PubMed Links

Gene Details

Gene

HPD

Gene Name

4-hydroxyphenylpyruvate dioxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171993.1	933	Missense Mutation	CAA,CCA	Q259P	NP_001165464.1
NM_002150.2	933	Missense Mutation	CAA,CCA	Q298P	NP_002141.1

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