IthaID: 2288
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS I-103 (G>A) | HGVS Name: | NT_010393.16:g.31479386G>A |
Context nucleotide sequence:
GTTTTGGAAAGGAGATAGCCCTGCAGGGCAGGAGGGATTTTTAAGGGGAG [G/A] AAGTGGGTTGGGGGAAATACCCAGTGAGGAGGGAAACAGATATGTAAATTCTACCCTTTT (Strand: +)
Also known as: 12347 (G>A), c.100-72G, rs8050390
Comments: Apparently neutral polymorphism in the promoter region of AHSP (alpha-haemoglobin stabilizing protein)
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NT_010393.16 |
| Locus Location: | 31479386 |
| Size: | 1 bp |
| Located at: | AHSP |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Afro-Caribbean, Indian, Brasilian, Mediterranean, Papua New Guinean, Melanesian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- dos Santos CO, Zhou S, Secolin R, Wang X, Cunha AF, Higgs DR, Kwiatkowski JL, Thein SL, Gallagher PG, Costa FF, Weiss MJ, Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function., Am. J. Hematol. , 83(2), 103-8, 2008
Created on 2013-10-16 16:31:05,
Last reviewed on 2020-09-28 16:46:21 (Show full history)
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