IthaID: 2719



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: rs1867380 HGVS Name: NG_011975.1:g.50874A>G

Context nucleotide sequence:
TCCAGAGCCTGACTCAGTCTTTAAG [A/G] CAGAACAATCTGAGGACAAACCAGA (Strand: +)

Protein sequence:
MQPEGAEKGKSFKQRLVLKSSLAKETLSEFLGTFILIVLGCGCVAQAILSRGRFGGVITINVGFSMAVAMAIYVAGGVSGGHINPAVSLAMCLFGRMKWFKLPFYVGAQFLGAFVGAATVFGIYYDGLMSFAGGKLLIVGENATAHIFATYPAPYLSLANAFADQVVATMILLIIVFAIFDSRNLGAPRGLEPIAIGLLIIVIASSLGLNSGCAMNPARDLSPRLFTALAGWGFEVFRAGNNFWWIPVVGPLVGAVIGGLIYVLVIEIHHPEPDSVFKAEQSEDKPEKYELSVIM

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). The association was replicated in an independent study, which enrolled sickle cell adult patients (n=211) from the Multicenter Study of Hydroxyurea in Sickle Cell Anemia (MSH).

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_011975.2
Locus Location: 50874
Size: 1 bp
Located at: AQP9
Specific Location: Exon 6

Other details

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

Sequence Viewer

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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 09:58:57, Last reviewed on 2016-05-25 09:54:34 (Show full history)

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