Product Details
- SNP ID
-
rs200020971
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:100721656 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCACGCCTCATCTGTGACAGCCGA[A/G]TCCTGGAGAGGTACCTCTTGGAGGC
- Phenotype
-
MIM: 133170
- Polymorphism
- A/G, 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 |
293 |
Missense Mutation |
ATC,GTC |
I38V |
NP_000790.2 |
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