IthaID: 3178



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2010963 HGVS Name: NG_008732.1:g.5398C>G

Context nucleotide sequence:
CGCGCGGGCGTGCGAGCAGCGAAAG [C/G] GACAGGGGCAAAGTGAGTGACCTGC (Strand: +)

Also known as: -634G/C

Comments: SNP associated with vaso-occlusive crisis in Bahraini with sickle cell anaemia.

External Links

Location

Chromosome: 6
Locus: NG_008732.1
Locus Location: 5398
Size: 1 bp
Located at: VEGFA
Specific Location: 5'UTR

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Vaso-occlusive crisis

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Bahraini
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Al-Habboubi HH, Mahdi N, Abu-Hijleh TM, Abu-Hijleh FM, Sater MS, Almawi WY, The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease., Eur. J. Haematol. , 89(5), 403-9, 2012 PubMed
Created on 2017-02-14 14:42:00, Last reviewed on 2017-02-14 14:43:27 (Show full history)

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