IthaID: 2679



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs17728960 HGVS Name: NC_000020.11:g.51513177T>C

Context nucleotide sequence:
AAGTTTTTAAATCATATATTGGATC [C/T] TCAAAGTTACAGGCACTTGGGCCAC (Strand: +)

Also known as:

Comments: SNP associated with acute chest syndrome in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1901). Follow-up validation studies replicated the association in individuals with sickle cell disease (SCD) acquired from the Georgia Health Sciences University (GHSU) Sickle Cell Center (n=318) but not in an independent SCD cohort acquired from the Duke University (n=449).

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome

Location

Chromosome: 20
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: NFATC2
Specific Location: Intron 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013 PubMed
Created on 2016-05-11 17:16:32, Last reviewed on 2016-05-11 17:23:08 (Show full history)

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