Product Details

SNP ID

rs186471906

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:80158128 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCAGCATCATCAAGCACCTCTT[C/T]ACTGGTCCTGTCCTCTCCAAACACC

Phenotype

MIM: 613871

Polymorphism

C/T, 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	314	Silent Mutation	TTC,TTT	F50F	NP_000128.1

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