Product Details

SNP ID

rs201487514

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23047827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGCACGTGCTGCAGCACTACCT[C/T]CTTGGAAGGGGCCGCGCACTTGTAC

Phenotype

MIM: 188040

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

THBD PubMed Links

Gene Details

Gene

THBD

Gene Name

thrombomodulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000361.2	1838	Missense Mutation			NP_000352.1

View Full Product Details