Product Details

SNP ID: rs121965073
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:80153101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGGATTCCGACTTCCCCATCCACA[A/T]CCTGCCCTACGGCGTCTTCTCGACC
Phenotype: MIM: 613871
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: FAH PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000137.2	211	Missense Mutation	AAC,ATC	N16I	NP_000128.1