IthaID: 3516
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs2218660 | HGVS Name: | NC_000002.12:g.46120653T>G |
Context nucleotide sequence:
TCAGATGTAGATGATGTAGGCTTTTT [T>G] AACTCTTCTGAAGATAGGAGAAGGC (Strand: +)
Also known as:
Comments: SNP associated with haematological parameters (e.g., lower levels of haemoglobin and haematocrit and a lower red blood cell count) in the Kore Association Resource (KARE) project of the Korean Genome Epidemiology Study (KoGES; n=8842). The association was replicated in healthy samples from the Cardio Vascular Disease Association Study (CAVAS) of KoGES (n=3667) [PMID: 26064965].
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: |
Abnormal Hb [HP:0011902] Abnormal haematocrit [HP:0031850] Abnormal red blood cell count [HP:0020058] |
Location
| Chromosome: | 2 |
|---|---|
| Locus: | NM_005400.3 |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | PRKCE |
| Specific Location: | Intron 11 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Korean |
| 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
- Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
Created on 2019-12-05 15:41:15,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-12-05 15:41:15 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07