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rs11568350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs11568350(G;T)
Make rs11568350(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position189565370
GeneSLC40A1
is asnp
is mentioned by
dbSNPrs11568350
ebirs11568350
HLIrs11568350
Exacrs11568350
Varsomers11568350
Maprs11568350
PheGenIrs11568350
hapmaprs11568350
1000 genomesrs11568350
hgdprs11568350
ensemblrs11568350
gopubmedrs11568350
geneviewrs11568350
scholarrs11568350
googlers11568350
pharmgkbrs11568350
gwascentralrs11568350
openSNPrs11568350
23andMers11568350
23andMe allrs11568350
SNP Nexus

SNPshotrs11568350
SNPdbers11568350
MSV3drs11568350
GWAS Ctlgrs11568350
GMAF0.009642
Max Magnitude0
? (G;G) (G;T) (T;T) 28

Ferroportin is the only currently known cellular iron exporter. It is a transmembrane protein responsible for iron export from enterocytes, macrophages, and many other cell types.

rs11568350: Mutation c.744G → T mutation in exon 6 of the SLC40A1 gene, resulting in Q248H amino acid substitution in the ferroportin-1 protein. The more common rs11568350(G) allele encodes the Q (glutamine) at this codon, while the less common rs11568350(T) encodes the H (histidine). The Q248H polymorphism is found primarily in populations of African origin [PMID 21231898].

In one study of 200 HIV-positive women in Rwanda, rs11568350(G;T) heterozygotes (i.e. Q248H carriers) had significantly higher values for serum ferritin (p=0.001) and significantly lower values for serum hepcidin (p=0.001) and transferrin (p=0.01) compared to rs11568350(G;G) homozygotes. They may also have been prone to higher prevalence of some opportunistic infections. [PMID 22249207]


GET Evidence
SLC40A1-Q248H
aa_change Gln248His
aa_change_short Q248H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0197992
summary