IthaID: 2925

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs186996510 HGVS Name: NG_015865.1:g.8168C>G

Context nucleotide sequence:

Protein sequence:

Also known as: 12C>G

Comments: SNP showed nominally significant association with haemoglobin levels in Tibetans living at high altitudes.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Anaemia [HP:0001903]


Chromosome: 1
Locus: NG_015865.1
Locus Location: 8168
Size: 1 bp
Located at: EGLN1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Tibetan
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Xiang K, Ouzhuluobu , Peng Y, Yang Z, Zhang X, Cui C, Zhang H, Li M, Zhang Y, Bianba , Gonggalanzi , Basang , Ciwangsangbu , Wu T, Chen H, Shi H, Qi X, Su B, Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation., Mol. Biol. Evol. , 30(8), 1889-98, 2013 PubMed
  2. Lorenzo FR, Huff C, Myllymäki M, Olenchock B, Swierczek S, Tashi T, Gordeuk V, Wuren T, Ri-Li G, McClain DA, Khan TM, Koul PA, Guchhait P, Salama ME, Xing J, Semenza GL, Liberzon E, Wilson A, Simonson TS, Jorde LB, Kaelin WG, Koivunen P, Prchal JT, A genetic mechanism for Tibetan high-altitude adaptation., Nat. Genet. , 46(9), 951-6, 2014 PubMed
Created on 2016-06-06 17:36:08, Last reviewed on 2016-06-07 09:37:27 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.