IthaID: 2481


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: CAP +14 C>G HGVS Name: HBA2:c.-24C>G

Also known as:

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33752
Size: 1 bp
Located at: α2
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Caucasian, Moroccan, Tunisian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: No

Publications / Origin

  1. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996
Created on 2014-06-04 10:23:27, Last reviewed on 2018-05-16 18:30:47 (Show full history)

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