IthaID: 3707


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs56737264 HGVS Name: NC_000002.12:g.15094029A>G

Context nucleotide sequence:
GAGACTCAGAAAGTGAGTTGTATTC [A>G] TTGTTAATAATAGTTTCAGAAAGA (Strand: +)

Also known as:

Comments: Genic Downstream Transcript Variant (NM_015909.4:c.). Associated with red blood cell alloimmunization in transfused patients with sickle cell disease. In strong LD with imputed SNP rs66516066.

External Links

Phenotype

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

Location

Chromosome: 2
Locus: NG_032964.1
Locus Location: N/A
Size: 1 bp
Located at: NBAS
Specific Location: N/A

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. Williams LM, Qi Z, Batai K, Hooker S, Hall NJ, Machado RF, Chen A, Campbell-Lee S, Guan Y, Kittles R, Hanchard NA, A locus on chromosome 5 shows African ancestry-limited association with alloimmunization in sickle cell disease., Blood Adv, 2(24), 3637-3647, 2018
Created on 2020-12-09 13:20:15, Last reviewed on (Show full history)

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