IthaID: 2620



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs157702 HGVS Name: NG_011966.2:g.74227G>A

Context nucleotide sequence:
CATACATATTTAAGAACTGTGAATG [C/T] AGTAGTAAGGAAATTAGGCTGTGTT (Strand: +)

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

External Links

Location

Chromosome: 6
Locus: NG_011966.2
Locus Location: 74227
Size: 1 bp
Located at: MAP3K7
Specific Location: Intron 16

Phenotype

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
Detection Methods: Direct DNA sequencing

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 11:56:27, Last reviewed on 2019-08-11 02:12:50 (Show full history)

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