IthaID: 2290
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 77 CTG>CTT | HGVS Name: | NT_010393.16:g.31479934G>T |
Context nucleotide sequence:
CAAGAGCGAGACAAGGCTCTGCAGGAGCTTCGGCAAGAGCTGAACACTCT [G/T] GCCAACCCTTTCCTGGCCAAGTACAGGGACTTCCTGAAGTCTCATGAGCT (Strand: +)
Also known as: 12895 (G>T), L77L, rs17677
Comments: Apparently neutral polymorphism in exon 3 of AHSP (alpha-hemoglobin 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: | 31479934 |
| Size: | 1 bp |
| Located at: | AHSP |
| Specific Location: | Exon 3 |
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2013-10-16 18:01:05,
Last reviewed on 2020-09-28 16:46:33 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-10-16 18:01:05 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-17 10:33:01 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-09-28 16:46:33 | The IthaGenes Curation Team | Reviewed. Inheritance corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07