Product Details

SNP ID
hCV32378028
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:121843897 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTCAACTCCCCTAGCCAGGTGGA[G/T]GTGCTGGGTCATCAGGATACAGGGT
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 Intron NP_001165464.1
NM_002150.2 Intron NP_002141.1

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