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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