IthaID: 2760



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs270393 HGVS Name: NC_000006.12:g.7768619G>C

Context nucleotide sequence:
ATATGTGTTCACCATTCTTATTTTT [C/G] CCCCGTTCTTATTGACTGTAGTGGT (Strand: +)

Comments: SNP associated with osteonecrosis (442 cases; 455 controls) and leg ulcers (243 cases; 516 controls) in the Cooperative Study of Sickle Cell Disease (CSSCD).

External Links

Location

Chromosome: 6
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: BMP6
Specific Location: Intron 1

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Leg ulcers [OMIM:150590]
Osteonecrosis/Avascular necrosis [HP:0010885] [OMIM:608805]

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. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 PubMed
  2. 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 2016-05-16 09:30:22, Last reviewed on 2016-05-16 09:32:54 (Show full history)

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