IthaID: 2834

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs5024042	HGVS Name:	NC_000011.10:g.5352332C>A

Context nucleotide sequence:
CTCATGTCGTTCACATCACAATGAG [A/C] TACATCCACTTCCTTTTCCCACCTT (Strand: +)

Protein sequence:
MGLNKSASTFQLTGFPGMEKAHHWIFIPLLAAYISILLGNGTLLFLIRNDHNLHEPMYYFLAMLAATDLGVTLTTMPTVLGVLWLDHREIGHGACFSQAYFIHTLSVMESGVLLAMAYDCFITIRSPLRYTSILTNTQVMKIGVRVLTRAGLSIMPIVVRLHWFPYCRSHVLSHAFCLHQDVIKLACADITFNRLYPVVVLFAMVLLDFLIIFFSYILILKTVMGIGSGGERAKALNTCVSHICCILVFYVTVVCLTFIHRFGKHVPHVVHITMRYIHFLFPPFMNPFIYSIKTKQIQSGILRLFSLPHSRA

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

dbSNP

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

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 PubMed
Green NS, Barral S, Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease., Pediatr Blood Cancer , 56(2), 177-81, 2011 PubMed

Created on 2016-05-17 13:12:19, Last reviewed on 2016-05-25 10:31:21 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-05-17 13:12:19	The IthaGenes Curation Team	Created
2	2016-05-24 18:05:51	The IthaGenes Curation Team	Reviewed.
3	2016-05-25 10:31:21	The IthaGenes Curation Team	Reviewed.

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