IthaID: 3575



Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: N/A
Common Name: rs968857 HGVS Name: NG_000007.3:g.58388A>T | NG_000007.3:g.58388A>G

Context nucleotide sequence:
TGCCTCTGCTATAGTTTGATTAGTCA [A/G/T] CAAGCATGTGTCATGCATTTATTCAC (Strand: -)

Also known as:

Comments: Variant 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).

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 58388
Size: 1 bp
Located at: HBD-HBBP1
Specific Location: N/A

Other details

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

Sequence Viewer

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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 PubMed
Created on 2020-03-10 15:49:47, Last reviewed on 2020-04-22 13:55:33 (Show full history)

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