IthaID: 2847



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs11321816 HGVS Name: NC_000006.12:g.135097900C>A

Context nucleotide sequence:
TTATTTACAGTTTTTTCACAAGCAA [C>A] CCTGCTGTATTTCTGTGCACAGATA (Strand: +)

Also known as: rs148201067

Comments: rs148201067 (A) associated with elevated HbF levels in β-thalassaemia patients from China (Guanxi province) [PMID: 27835778], as well as in a sickle cell anaemia cohort from Tanzania [PMID: 25928412].

External Links

Location

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

Phenotype

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: Tanzanian, Chinese
Inheritance: Quantitative trait
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Mtatiro SN, Mgaya J, Singh T, Mariki H, Rooks H, Soka D, Mmbando B, Thein SL, Barrett JC, Makani J, Cox SE, Menzel S, Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer., BMC Med. Genet. , 16(0), 4, 2015 PubMed
  2. Yi S, Lai Y, Zuo Y, Chen Y, Qin H, Wei Y, Yang Q, Lin L, Luo J, Fan X, Zheng C, Common genetic polymorphisms at three loci affect HbF levels in β-thalassemia patients from Southern China., Blood Cells Mol. Dis. , 62(0), 22-23, 2016 PubMed
Created on 2016-05-17 15:27:01, Last reviewed on 2019-05-23 14:16:09 (Show full history)

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