IthaID: 3121



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs7385804 HGVS Name: NG_007989.1:g.8204G>T

Context nucleotide sequence:
CCTGAGCAGGCTGGGTGCGGTACCT [A/C] ATTCCTATAATCCCAGCATTTTGGG (Strand: +)

Comments: SNP (Allele C) associated with lower serum ferritin concentration in the Kenyan population.

External Links

Location

Chromosome: 7
Locus: NG_007989.1
Locus Location: 8204
Size: 1 bp
Located at: TFR2
Specific Location: Intron 4

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Decreased serum ferritin [HP:0012343]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Gichohi-Wainaina WN, Tanaka T, Towers GW, Verhoef H, Veenemans J, Talsma EF, Harryvan J, Boekschoten MV, Feskens EJ, Melse-Boonstra A, Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry., PLoS ONE , 11(6), e0157996, 2016 PubMed
Created on 2016-10-06 11:47:56, Last reviewed on 2019-07-04 12:50:48 (Show full history)

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