Product Details

SNP ID
rs201069425
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100721963 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCGGGCTGTGTGCATTTCAGA[C/T]GGGCTGTGCTGAACACTGCAGCTTG
Phenotype
MIM: 133170
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
EPO PubMed Links

Gene Details

Gene
EPO
Gene Name
erythropoietin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000799.2 342 Missense Mutation ACG,ATG T54M NP_000790.2

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