Product Details

SNP ID

rs201326665

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100723038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCACTCCGAACAATCACTGCT[C/G]ACACTTTCCGCAAACTCTTCCGAGT

Phenotype

MIM: 133170

Polymorphism

C/G, Transversion 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	668	Missense Mutation	CAC,GAC	H163D	NP_000790.2

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