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:
GGCTCGGCCCGCCGGGCCCGCCGCT [C/G] TCATTGGCCATGGCGGCGGCGGCGG (Strand: +)

Protein sequence:
MANESGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCKEHQRQDWKKHKLVCQGSEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDNASGDAAKGKVKAKPPADPAAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKANLYPPSNTPGDALSPGGGLRPNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKETGQQIGDEVRALHDTGKFTDGQLVSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSMDDLIRHCNGKLGSYKINGRTKAMVACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDSVGKDVF

Also known as: 12C>G

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

External Links

Phenotype

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

Location

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

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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)

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