Product Details

SNP ID
rs5940
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:187466977 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AAAATTTCTTCATATGCTATTTTCA[C/T]TCTCTGCTTCTTTCTTTTTCTTTTG
Phenotype
MIM: 152310
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TFPI PubMed Links

Gene Details

Gene
TFPI
Gene Name
tissue factor pathway inhibitor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005246818.1 1200 Missense Mutation ATG,GTG M292V XP_005246875.1
XM_005246819.1 1200 Missense Mutation ATG,GTG M292V XP_005246876.1
XM_006712720.3 1200 Missense Mutation ATG,GTG M292V XP_006712783.1
XM_011511707.2 1200 Missense Mutation ATG,GTG M292V XP_011510009.1
XM_011511708.1 1200 Missense Mutation ATG,GTG M292V XP_011510010.1
XM_011511709.2 1200 Missense Mutation ATG,GTG M292V XP_011510011.1

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