Product Details

SNP ID

rs142807207

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121888874 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCACGATGTCCGACGAGGAAGC[C/G]AGGCAGAGCGGAGGCTCCTCGCAGG

Phenotype

MIM: 609695 MIM: 603146

Polymorphism

C/G, 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	144	Intron			NP_001165464.1
NM_002150.2	144	Intron			NP_002141.1

Gene

PSMD9

Gene Name

proteasome 26S subunit, non-ATPase 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261400.2	144	Silent Mutation	GCC,GCG	A6A	NP_001248329.1
NM_002813.6	144	Silent Mutation	GCC,GCG	A6A	NP_002804.2

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