IthaID: 3205



Names and Sequences

Functionality: Disease modifying mutation
Common Name: rs2814778 HGVS Name: NG_011626.2:g.5174T>C

Context nucleotide sequence:
GGCTGTCAGCGCCTGTGCTTCCAAG [A/G] TAAGAGCCAAGGACTAATGAGGGCC (Strand: -)

Also known as:

Comments: SNP associated with white blood cell (WBC) and absolute neutrophil count (ANC) levels in SCA pediatric cohorts acquired from the HUSTLE (Hydroxyurea Study of Long-termEffects), SWiTCH (StrokeWith Transfusions Changing to Hydroxyurea) and TWiTCH (TCDWith Transfusions Changing to Hydroxyurea) clinical trials. It also associated with a small protective effect against albuminuria in participants from the HUSTLE and TWiTCH studies.

External Links

Location

Chromosome: 1
Locus: NG_011626.1
Locus Location: 5174
Size: 1 bp
Located at: ACKR1
Specific Location: 5'UTR

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Abnormal neutrophil cell number [HP:0011991]
Abnormal white blood cell count [HP:0011893]
Albuminuria [HP:0012592]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
Created on 2017-03-13 15:08:12, Last reviewed on 2017-03-13 16:21:59 (Show full history)

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