Product Details

SNP ID

rs11541800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:31592953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGTTCTAGATGCTGTCCGAGGC[A/G]GTCCTGCCATCAATGTGGCCGTGCA

Phenotype

MIM: 176300

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TTR PubMed Links

Gene Details

Gene

TTR

Gene Name

transthyretin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000371.3	263	Missense Mutation	AGT,GGT	S43G	NP_000362.1

View Full Product Details