IthaID: 3741

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs12275279 HGVS Name: NC_000011.10:g.72726251C>A

Context nucleotide sequence:

Also known as:

Comments: Associated with alloimmune responder status in an African American cohort of multiply transfused sickle cell disease patients.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Red blood cell alloimmunisation


Chromosome: 11
Locus: NM_001040118.3
Locus Location: N/A
Size: 1 bp
Located at: ARAP1
Specific Location: Intron 3

Other details

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

Publications / Origin

  1. Hanchard NA, Moulds JM, Belmont JW, Chen A, A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease., Transfus Med Hemother, 41(6), 453-61, 2014
Created on 2021-02-17 15:33:01, Last reviewed on (Show full history)

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