IthaID: 3523
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs7138216 | HGVS Name: | NC_000012.12:g.4225142G>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGAAAGGCAGGAGGACAAAGACCTGCA [G>C] AAAGTTTCCCATCTGGGAGCCTATGAGA (Strand: +)
Comments: SNP associated with 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). SNP is located approximately 50 kb upstream the ncRNA LOC105369612 within the intergenic region between RPL18P9 and CCND2-AS1.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | Abnormal red blood cell count [HP:0020058] |
Location
| Chromosome: | 12 |
|---|---|
| Locus: | |
| Locus Location: | N/A |
| Size: | 1 bp |
| Located at: | RPL18P9-CCND2-AS1 |
| Specific Location: | N/A |
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
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 2019-12-09 15:23:19,
Last reviewed on 2019-12-09 15:36:54 (Show full history)
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