IthaID: 3261



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs9736333 HGVS Name: NG_000007.3:g.16784A>G

Context nucleotide sequence:
GTTACACAGAACCAGAAGGCGGGGG [ C/T] GGGGCACTGACCCCGACAGGGGCCT (Strand: +)

Comments: SNP is located in DNase I HS-2 within a putative ZBTB7A-binding site. ZBTB7A (leukemia/lymphoma related factor; LRF) is an important repressor of γ-globin gene transcription. SNP was reported to influence HbF levels in patients with African origin haplotypes of sickle cell anaemia (study samples were obtained from the Cooperative Study of Sickle Cell Disease (CSSCD)).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 16784
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: African American
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Shaikho EM, Habara AH, Alsultan A, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Patra PK, Sebastiani P, Baltrusaitis K, Farrell JJ, Jiang Z, Luo HY, Chui DH, Al-Ali AK, Steinberg MH, Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia., Blood Cells Mol. Dis. , 59(0), 49-51, 2016 PubMed
  2. Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2017-09-22 19:25:43, Last reviewed on (Show full history)

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