IthaID: 2848



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1074849 HGVS Name: NC_000006.12:g.135102274G>A

Context nucleotide sequence:
GCTGCACCCTTTTACATTTCCATAA [A/G] CAATGCACAAGGGTTTCAATTTCTC (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in individuals from Tanzania with sickle cell disease (n=1022).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

Other details

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

In silico pathogenicity prediction

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
Created on 2016-05-17 15:29:54, Last reviewed on 2018-11-20 19:39:15 (Show full history)

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