IthaID: 3121
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7385804 | HGVS Name: | NG_007989.1:g.8204G>T |
Context nucleotide sequence:
CCTGAGCAGGCTGGGTGCGGTACCT [A/C] ATTCCTATAATCCCAGCATTTTGGG (Strand: +)
Also known as:
Comments: SNP (Allele C) associated with lower serum ferritin concentration in the Kenyan population.
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: | Decreased serum ferritin [HP:0012343] |
Location
| Chromosome: | 7 |
|---|---|
| Locus: | NG_007989.1 |
| Locus Location: | 8204 |
| Size: | 1 bp |
| Located at: | TFR2 |
| Specific Location: | Intron 4 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016
Created on 2016-10-06 11:47:56,
Last reviewed on 2019-07-04 12:50:48 (Show full history)
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