IthaID: 2717



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1440372 HGVS Name: NG_012244.1:g.43478T>C

Context nucleotide sequence:
TACAGTTGAGTGAATGATCTTTGCT [C/T] GCTTTTCTTCCTCCCACACTTTGGT (Strand: +)

Also known as:

Comments: SNP associated with HbF levels in the older subjects (≥ 24 years; n=538) of the Cooperative Study of Sickle Cell Disease (CSSCD).

External Links

Phenotype

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

Location

Chromosome: 15
Locus: NG_012244.1
Locus Location: 43478
Size: 1 bp
Located at: SMAD6
Specific Location: Intron 3

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

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

  1. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008 PubMed
Created on 2016-05-13 09:40:02, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.