IthaID: 3191
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs11036338 | HGVS Name: | NG_000007.3:g.76148C>G |
Context nucleotide sequence:
AGGCAGTCTGCCTGTTCTCAGATCT [C/G] AAGCTATGTGCTGGGAGAACCACTA (Strand: +)
Also known as:
Comments: SNP associated with HbA2 levels in individuals from the SardiNIA study.
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: | Anaemia [HP:0001903] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | |
| Locus Location: | 76148 |
| Size: | 1 bp |
| Located at: | OR51V1-HBB |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2017-02-20 16:53:19,
Last reviewed on (Show full history)
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