Product Details

SNP ID
rs202195651
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:80158068 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCGTCTTCCTCCTAGCCAAGACC[A/G]AGGATAGGTGTGGCCATTGGCGACC
Phenotype
MIM: 613871
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAH PubMed Links

Gene Details

Gene
FAH
Gene Name
fumarylacetoacetate hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000137.2 254 Silent Mutation CCA,CCG P30P NP_000128.1

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