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

  1. 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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