IthaID: 2617

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1434549 HGVS Name: NG_009245.1:g.336782T>C

Context nucleotide sequence:

Also known as:

Comments: SNP associated with glomerular filtration rate in the Cooperative Study of Sickle Cell Disease (CSSCD) (n=1140).

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal GFR [HP:0012212]


Chromosome: 4
Locus: NG_009245.1
Locus Location: 336782
Size: 1 bp
Located at: BMPR1B
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. Nolan VG, Ma Q, Cohen HT, Adewoye A, Rybicki AC, Baldwin C, Mahabir RN, Homan EP, Wyszynski DF, Fabry ME, Nagel RL, Farrer LA, Steinberg MH, Estimated glomerular filtration rate in sickle cell anemia is associated with polymorphisms of bone morphogenetic protein receptor 1B., Am. J. Hematol. , 82(3), 179-84, 2007 PubMed
Created on 2016-05-10 11:35:35, Last reviewed on (Show full history)

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