IthaID: 2516


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 338 CCC>ACC [Pro>Thr] HGVS Name: NG_013087.1:g.7242C>A

Context nucleotide sequence:
CTACCGGAAACACACGGGGCAGCGC [C/A] CCTTCCGCTGCCAGCTCTGCCCACG (Strand: -)

Also known as:

Comments: Associated with borderline HbA2.

External Links

No available links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: N/A

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7242
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Lou JW, Li DZ, Zhang Y, He Y, Sun MN, Ye WL, Liu YH, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals., Blood Cells Mol. Dis. , 2014
Created on 2014-06-06 08:17:14, Last reviewed on 2014-06-12 10:41:59 (Show full history)

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