IthaID: 2924

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs4786504 HGVS Name: NC_000016.10:g.4487692T>C

Context nucleotide sequence:
gctggcgcctgtagtcccagctcct [C/T] gggaggctgaggtgggagaatggcg (Strand: +)

Also known as:

Comments: SNP associated with haemoglobin (Hb) levels in Tibetans living at high altitudes. The association was significant only in males, not in females.

External Links


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


Chromosome: 16
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: HMOX2
Specific Location: Intron 1

Other details

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

Sequence Viewer

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Publications / Origin

  1. Yang D, Peng Y, Ouzhuluobu , Bianbazhuoma , Cui C, Bianba , Wang L, Xiang K, He Y, Zhang H, Zhang X, Liu J, Shi H, Pan Y, Duojizhuoma , Dejiquzong , Cirenyangji , Baimakangzhuo , Gonggalanzi , Liu S, Gengdeng , Wu T, Chen H, Qi X, Su B, HMOX2 Functions as a Modifier Gene for High-Altitude Adaptation in Tibetans., Hum. Mutat. , 37(2), 216-23, 2016 PubMed
Created on 2016-06-06 15:29:22, Last reviewed on 2016-06-06 17:38:51 (Show full history)

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