Product Details

SNP ID

rs12917072

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:80155467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAAAGCATCATGCTCCAGATCTC[A/C]CAGCCAGTAAGAGGCAGATATGGGG

Phenotype

MIM: 613871

Polymorphism

A/C, 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		Intron			NP_000128.1

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