IthaID: 3257



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs231841 HGVS Name: NG_008935.1:g.262384G>T

Context nucleotide sequence:
GCCTGTGTTCGACATCCTTGGAGAA [A/C] ACAACAACAAAGGCTGGGAGACAGC (Strand: -)

Also known as:

Comments: SNP (C allele) associated with elevated Hb A2 levels in Chinese β-thalassaemia carriers.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Anaemia [HP:0001903]

Location

Chromosome: 11
Locus: NG_008935.1
Locus Location: 262384
Size: 1 bp
Located at: KCNQ1
Specific Location: Intron 11

Other details

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

Sequence Viewer

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Publications / Origin

  1. Yu S, Chen Y, Lai K, Dewan RK, He Y, A Novel Variant with Positive Natural Selection Influenced Hb A2 Levels in Chinese Individuals with β-Thalassemia., Hemoglobin , 2017 PubMed
Created on 2017-09-11 19:11:01, Last reviewed on (Show full history)

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