IthaID: 3302



Names and Sequences

Functionality: Neutral polymorphism
Common Name: +778 C>A HGVS Name: HBA1:c.*46C>A

Context nucleotide sequence:
GCTTCTTGCCCCTTGGGCCTCCCCC [A/C/T] AGCCCCTCCTCCCCTTCCTGCACCC (Strand: +)

Also known as:

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38320
Size: 1 bp
Located at: α1
Specific Location: 3'UTR

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004 PubMed
  2. Ropero P, González FA, Nieto JM, Villegas A, Sevilla J, Pérez G, Alonso JM, Recasens V, Abio M, Vagace JM, Vanegas RJ, González Fernández B, Martínez R, C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?, J. Clin. Pathol., 73(1), 14-16, 2020 PubMed
Created on 2018-01-30 19:12:40, Last reviewed on 2020-01-17 12:02:46 (Show full history)

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