Product Details

SNP ID

rs77762674

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100721581 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAATGTCCTGCCTGGCTGTGGCTT[C/T]TCCTGTCCCTGCTGTCGCTCCCTCT

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	218	Missense Mutation	CTC,TTC	L13F	NP_000790.2

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