Product Details

SNP ID

rs148056985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:23047994 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCCCCACGGCCGGAGGAGTCAAG[G/T]TGGAGCCGGGCGTCGGGCTGGGCGG

Phenotype

MIM: 188040

Polymorphism

G/T, Transversion 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	1671	Missense Mutation	AAC,ACC	N504T	NP_000352.1

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