Product Details

SNP ID
hCV27862070
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:80158163 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCTCTCCAAACACCAGGATGTCT[G/T]CAATCAGGTAGGACATTGTGAAACG
Phenotype
MIM: 613871
Polymorphism
G/T, Transversion 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_000137.2 349 Missense Mutation TGC,TTC C62F NP_000128.1

View Full Product Details