IthaID: 2833


Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs5006883 HGVS Name: NC_000011.10:g.5352081T>C

Context nucleotide sequence:
CAAGCTAGCCTGTGCTGACATCACC [C/T] TCAACCGTCTCTATCCAGTTGTAGT (Strand: +)

Protein sequence:
MGLNKSASTFQLTGFPGMEKAHHWIFIPLLAAYISILLGNGTLLFLIRNDHNLHEPMYYFLAMLAATDLGVTLTTMPTVLGVLWLDHREIGHGACFSQAYFIHTLSVMESGVLLAMAYDCFITIRSPLRYTSILTNTQVMKIGVRVLTRAGLSIMPIVVRLHWFPYCRSHVLSHAFCLHQDVIKLACADITLNRLYPVVVLFAMVLLDFLIIFFSYILILKTVMGIGSGGERAKALNTCVSHICCILVFYVTVVCLTFIHRFGKHVPHVVHITMSYIHFLFPPFMNPFIYSIKTKQIQSGILRLFSLPHSRA

Also known as:

Comments: SNP associated with HbF levels in the Cooperative Study of Sickle Cell Disease (CSSCD; n=848). The association was replicated in an indpendent study sample acquired from the Multicenter Study of Hydroxyurea (MSH; n=212), the Duke University pulmonary hypertension study (n=78), and the Boston Medical Center (BMC) pulmonary hypertension study (n=15). SNP is found in a region on chromosome 11 containing the olfactory genes OR51B5 and OR51B6.

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: 11
Locus: N/A
Locus Location: N/A
Size: 1 bp
Located at: OR51B6
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010
Created on 2016-05-17 13:06:43, Last reviewed on 2016-05-25 10:27:54 (Show full history)

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