Product Details

SNP ID

rs146859499

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121894790 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGTGGACTGTGAGGGCTACCCC[C/T]GGTCAGACGTGGACCTGTACCAAGT

Phenotype

MIM: 609695 MIM: 603146

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HPD PubMed Links

Gene Details

Gene

HPD

Gene Name

4-hydroxyphenylpyruvate dioxygenase

There are no transcripts associated with this gene.

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	316	Intron			NP_001248329.1
NM_002813.6	316	Missense Mutation	CGG,TGG	R64W	NP_002804.2

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