IthaID: 2687



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs3730070 HGVS Name: NG_042166.1:g.19032C>G

Context nucleotide sequence:
AGGGCCCAGCACTCAGCTCAGCCTC [C/G] TCTCCCTCAGTACTCCCGGAAGGTG (Strand: -)

Also known as:

Comments: SNP (GG genotype) associated with elevated red blood cell adhesion to laminin in individuals with sickle cell disease (SCD) acquired from the Sickle cell Centre of the Duke University. Red cell adhesion is thought to contribute to the vaso-occlusive process in SCD [PMID: 18324973]. The rs3730070-G allele associated with lower haemolytic rate in SCD patients from Guadeloupe [PMID: 27067484].

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
RBC adhesion

Location

Chromosome: 12
Locus: NG_042166.1
Locus Location: 19032
Size: 1 bp
Located at: ADCY6
Specific Location: Intron

Other details

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

Sequence Viewer

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Publications / Origin

  1. Eyler CE, Jackson T, Elliott LE, De Castro LM, Jonassaint J, Ashley-Koch A, Telen MJ, beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion., Br. J. Haematol. , 141(1), 105-8, 2008 PubMed
  2. Cita KC, Ferdinand S, Connes P, Brudey L, Tressières B, Etienne-Julan M, Lemonne N, Tarer V, Elion J, Romana M, Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia., Blood Cells Mol. Dis. , 58(0), 21-5, 2016 PubMed
Created on 2016-05-12 09:56:49, Last reviewed on 2017-10-16 17:20:46 (Show full history)

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