IthaID: 2891
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2012700 | HGVS Name: | NG_008462.1:g.40670G>A |
Context nucleotide sequence:
AAATAGTCTAAGCTGCTGCCTTATG [A/G] ACAAGTAAGAGGAAATGGGAAGTGG (Strand: +)
Also known as:
Comments: SNP associated with HbF level variation in the Multicenter Study of Hydroxyurea in SCA (n=280).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 6 |
|---|---|
| Locus: | NG_008462.1 |
| Locus Location: | 40670 |
| Size: | 1 bp |
| Located at: | PEX7 |
| Specific Location: | Intron 5 |
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 |
In silico pathogenicity prediction
Publications / Origin
- Wyszynski DF, Baldwin CT, Cleves MA, Amirault Y, Nolan VG, Farrell JJ, Bisbee A, Kutlar A, Farrer LA, Steinberg MH, Polymorphisms near a chromosome 6q QTL area are associated with modulation of fetal hemoglobin levels in sickle cell anemia., Cell. Mol. Biol. (Noisy-le-grand) , 50(1), 23-33, 2004
- Driss A, Asare KO, Hibbert JM, Gee BE, Adamkiewicz TV, Stiles JK, Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype., Genomics Insights , 2009(2), 23-48, 2009
Created on 2016-05-23 09:23:32,
Last reviewed on (Show full history)
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