IthaID: 3139
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs60684937 | HGVS Name: | NC_000017.11:g.69422989T>C |
Context nucleotide sequence:
ATCGCCACCTCCTGGGTTCAAGCGA [C/T] CCTCCTGCCTCAGCCTCCCGAGTAG (Strand: +)
Also known as:
Comments: The T allele associated with increased plasma EPO levels in adult SCD patients from the Walk-PHaSST, PUSH, Howard and UIC cohorts. It also associated with increased expression of a non-coding transcript of PRKAR1A gene, suggesting that this SNP may contribute to EPO regulation through a cAMP-dependent protein kinase A pathway.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | EPO levels |
Location
| Chromosome: | 17 |
|---|---|
| Locus: | NG_029437.1 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | MAP2K6 |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African American, African |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhang X, Shah BN, Zhang W, Saraf SL, Miasnikova G, Sergueeva A, Ammosova T, Niu X, Nouraie M, Nekhai S, Castro O, Gladwin MT, Prchal JT, Garcia JG, Machado RF, Gordeuk VR, A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease., Hum. Mol. Genet. , 2016
Created on 2017-01-16 13:27:39,
Last reviewed on 2017-01-23 13:43:42 (Show full history)
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