IthaID: 2788



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs12160039 HGVS Name: NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C

Context nucleotide sequence:
TTTCTTGCGTGCTCGGTAGGAGAAG [A/C/T] GGTGATAGGGGGTTGGCAGGAGCTG (Strand: +)

Comments: SNP associated with acute chest syndrome in the Cooperative Study of Sickle Cell Disease (CSSCD) (1514 subjects).

External Links

Location

Chromosome: 22
Locus: NG_023030.1
Locus Location: 18226
Size: 1 bp
Located at: HMOX1
Specific Location: N/A

Phenotype

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

Other details

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

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 2016-05-16 16:02:21, Last reviewed on (Show full history)

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