IthaID: 2950



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs16912979 HGVS Name: NG_000007.3:g.9151A>G

Context nucleotide sequence:
CTGCGTCCCCTCTTGTGTACTGGGG [C/T] CCCCAAGAGCTCTCTAAAAGTGATG (Strand: +)

Comments: SNP is located in DNase I HS-4. It was reported to influence HbF expression levels in Saudi patients with sickle cell disease. SNP associated with disease severity and HbF levels in Thai β0-thalassaemia/HbE patients.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 9151
Size: 1 bp
Located at: βLCR
Specific Location: N/A

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Nuinoon M, Makarasara W, Mushiroda T, Setianingsih I, Wahidiyat PA, Sripichai O, Kumasaka N, Takahashi A, Svasti S, Munkongdee T, Mahasirimongkol S, Peerapittayamongkol C, Viprakasit V, Kamatani N, Winichagoon P, Kubo M, Nakamura Y, Fucharoen S, A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E., Hum. Genet. , 127(3), 303-14, 2010 PubMed
  2. Vathipadiekal V, Alsultan A, Baltrusaitis K, Farrell JJ, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Suliman A, Patra PK, Milton JN, Farrer LA, Chui DH, Al-Ali AK, Sebastiani P, Steinberg MH, Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia., Am. J. Hematol. , 91(6), E308-11, 2016 PubMed
Created on 2016-08-10 10:06:50, Last reviewed on 2016-09-28 12:57:46 (Show full history)

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