IthaID: 3491


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs2076086 HGVS Name: NG_012856.2:g.40068G>A

Context nucleotide sequence:
TTCTACATGCAGCTTCCATTATGA [G>A] CACCCAGGAAGTGGGGTTCTCTCACT (Strand: -)

Also known as:

Comments: SNP associated with higher haemoglobin levels 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).

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]

Location

Chromosome: 22
Locus: NG_012856.2
Locus Location: 40068
Size: 1 bp
Located at: TMPRSS6
Specific Location: Intron 12

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

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
Created on 2019-11-18 13:10:06, Last reviewed on 2019-12-11 11:40:49 (Show full history)

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