IthaID: 3573


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: rs3834466 HGVS Name: NG_000007.3:g.27282dup

Context nucleotide sequence:
TTTCCTTGGCCCTGTTTTTGTCA [-/A] CTGTCACCACCTTTAAGGCAAA (Strand: -)

Also known as:

Comments: Variant 2KB upstream of the HBE1 gene. It identifies the polymorphic site HincII in the beta-globin gene cluster, which is used in the characterization of βS haplotypes (Benin, Bantu, Senegal, Cameroon, Arab-Indian).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 27282
Size: 1 bp
Located at: β
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Shaikho EM, Farrell JJ, Alsultan A, Qutub H, Al-Ali AK, Figueiredo MS, Chui DHK, Farrer LA, Murphy GJ, Mostoslavsky G, Sebastiani P, Steinberg MH, A phased SNP-based classification of sickle cell anemia HBB haplotypes., BMC Genomics, 18(1), 608, 2017
Created on 2020-03-10 15:30:25, Last reviewed on 2020-04-22 13:05:10 (Show full history)

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