Product Details

SNP ID
rs137852226
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:139537139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGAAGAAAAGTGTAGTTTTGAAG[A/T]AGCACGAGAAGTTTTTGAAAACACT
Phenotype
MIM: 300746
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
F9 PubMed Links

Gene Details

Gene
F9
Gene Name
coagulation factor IX
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000133.3 263 Missense Mutation GAA,GTA E73V NP_000124.1
NM_001313913.1 263 Missense Mutation GAA,GTA E73V NP_001300842.1
XM_005262397.4 263 Missense Mutation GAA,GTA E73V XP_005262454.1

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