Product Details

SNP ID: rs121918077
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:31592992 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTGGCCGTGCATGTGTTCAGAAAG[C/G]CTGCTGATGACACCTGGGAGCCATT
Phenotype: MIM: 176300
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: TTR PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000371.3	302	Missense Mutation	CCT,GCT	P56A	NP_000362.1