IthaID: 3429

Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs9376095 HGVS Name: NC_000006.12:g.135129617T>C

Context nucleotide sequence:

Comments: SNP associated with HbF levels in β-thalassaemia heterozygotes from Hong Kong.

External Links


Chromosome: 6
Locus: NT_025741.15
Locus Location: N/A
Size: 1 bp
Located at: HBS1L-MYB
Specific Location: N/A 0


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

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

Sequence Viewer

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Publications / Origin

  1. So CC, Song YQ, Tsang ST, Tang LF, Chan AY, Ma ES, Chan LC, The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia., J. Med. Genet. , 45(11), 745-51, 2008 PubMed
Created on 2019-05-27 16:24:45, Last reviewed on 2019-05-27 16:26:13 (Show full history)

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