IthaID: 2288

Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: IVS I-103 (G>A) HGVS Name: NT_010393.16:g.31479386G>A

Context nucleotide sequence:

Also known as: 12347 (G>A), c.100-72G, rs8050390

Comments: Apparently neutral polymorphism in the promoter region of AHSP (alpha-haemoglobin stabilizing protein)

External Links


Allele Phenotype:Neutral
Associated Phenotypes: N/A


Chromosome: 16
Locus: NT_010393.16
Locus Location: 31479386
Size: 1 bp
Located at: AHSP
Specific Location: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Afro-Caribbean, Indian, Brasilian, Mediterranean, Papua New Guinean, Melanesian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. dos Santos CO, Zhou S, Secolin R, Wang X, Cunha AF, Higgs DR, Kwiatkowski JL, Thein SL, Gallagher PG, Costa FF, Weiss MJ, Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function., Am. J. Hematol. , 83(2), 103-8, 2008 PubMed
Created on 2013-10-16 16:31:05, Last reviewed on 2020-09-28 16:46:21 (Show full history)

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