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rs35213748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs35213748(C;T)
Make rs35213748(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position177008
GeneHBA1
is asnp
is mentioned by
dbSNPrs35213748
ebirs35213748
HLIrs35213748
Exacrs35213748
Varsomers35213748
Maprs35213748
PheGenIrs35213748
hapmaprs35213748
1000 genomesrs35213748
hgdprs35213748
ensemblrs35213748
gopubmedrs35213748
geneviewrs35213748
scholarrs35213748
googlers35213748
pharmgkbrs35213748
gwascentralrs35213748
openSNPrs35213748
23andMers35213748
23andMe allrs35213748
SNP Nexus

SNPshotrs35213748
SNPdbers35213748
MSV3drs35213748
GWAS Ctlgrs35213748
Max Magnitude0
OMIM141800
Desc
Variant0092
Relatedalso
ClinVar
Risk rs35213748(T;T)
Alt rs35213748(T;T)
Reference rs35213748(C;C)
Significance Other
Disease HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG HEMOGLOBIN M (GOTHENBURG) HEMOGLOBIN M (OSAKA) HEMOGLOBIN M (KISKUNHALAS)
Variation info
Gene HBA1
CLNDBN HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG HEMOGLOBIN M (GOTHENBURG) HEMOGLOBIN M (OSAKA) HEMOGLOBIN M (KISKUNHALAS)
Reversed 0
HGVS NC_000016.9:g.227007C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017098.2, RCV000017099.2, RCV000017100.2, RCV000017101.2, RCV000017102.2,


[PMID 235745] High cooperativity of haemoglobin M Boston in the completely reduced state.


[PMID 4521212OA-icon.png] Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme.


[PMID 6255985] Proton nuclear magnetic resonance studies of hemoglobins M Boston (alpha 58E7 His leads to Tyr) and M Milwaukee (beta 67E11 Val leads to Glu): spectral assignments of hyperfine-shifted proton resonances and of proximal histidine (E7) NH resonances to the alpha and beta chains of normal human adult hemoglobin.