IthaID: 2618

Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs1560909 HGVS Name: NG_009245.1:g.346101A>G

Context nucleotide sequence:

Also known as:

Comments: SNP associated with leg ulcers in the Cooperative Study of Sickle Cell Disease (CSSCD) (243 cases;516 controls).

External Links


Chromosome: 4
Locus: NG_009245.1
Locus Location: 346101
Size: 1 bp
Located at: BMPR1B
Specific Location: Intron 3


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

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

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
Created on 2016-05-10 11:43:36, Last reviewed on (Show full history)

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