IthaID: 3524

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs16887645 HGVS Name: NC_000008.11:g.115685828C>A

Also known as:

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 found upstream of three ncRNAs (LOC107986902, LOC107986903, and LOC107986968) within the intergenic region between TRPS1 and LINC00536.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal red blood cell count [HP:0020058]


Chromosome: 8
Locus Location: N/A
Size: 1 bp
Located at: TRPS1-LINC00536
Specific Location: N/A 0

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

  1. 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 2019-12-10 08:29:13, Last reviewed on 2019-12-10 08:35:32 (Show full history)

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