IthaID: 2596



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2836430 HGVS Name: NG_029732.1:g.189152A>C

Context nucleotide sequence:
GGTCACTTAATTTATCACTCAGGCA [G/T] GAGCTTTCTTTAGCATCAGTTCATG (Strand: +)

Also known as:

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

External Links

Phenotype

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

Location

Chromosome: 21
Locus: NG_029732.1
Locus Location: 189152
Size: 1 bp
Located at: ERG
Specific Location: Intron

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

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2016-05-09 16:28:20, Last reviewed on (Show full history)

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