Product Details

SNP ID
hCV27532237
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:46719770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGCGAGCCAACACCTTCTTGGAG[A/G]AGGTGCGCAAGGGCAACCTGGAGCG
Phenotype
MIM: 176930
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
F2 PubMed Links

Gene Details

Gene
F2
Gene Name
coagulation factor II, thrombin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000506.4 170 Missense Mutation AAG,GAG K50E NP_000497.1
NM_001311257.1 170 Missense Mutation AAG,GAG K34E NP_001298186.1

View Full Product Details