IthaID: 2769



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs736839 HGVS Name: NC_000018.10:g.49001695C>T

Context nucleotide sequence:
CCCGTGTCCACACCCAGCACACTCC [C/T] GGCTTCAAATGCCCCAAAGGTCACA (Strand: +)

Also known as:

Comments: SNP associated with leg ulcers in the Cooperative Study of Sickle Cell Disease (CSSCD) (243 cases; 516 controls). Associated with acute chest syndrome in individuals with sickle cell disease.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Acute chest syndrome
Leg ulcers [OMIM:150590]

Location

Chromosome: 18
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: SMAD7
Specific Location: N/A

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. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  2. Fertrin KY, Costa FF, Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment., Expert Rev Hematol , 3(4), 443-58, 2010 PubMed
Created on 2016-05-16 11:00:35, Last reviewed on 2016-05-23 16:02:06 (Show full history)

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