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rs35857380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs35857380(A;T)
Make rs35857380(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226785
GeneHBB
is asnp
is mentioned by
dbSNPrs35857380
ebirs35857380
HLIrs35857380
Exacrs35857380
Varsomers35857380
Maprs35857380
PheGenIrs35857380
hapmaprs35857380
1000 genomesrs35857380
hgdprs35857380
ensemblrs35857380
gopubmedrs35857380
geneviewrs35857380
scholarrs35857380
googlers35857380
pharmgkbrs35857380
gwascentralrs35857380
openSNPrs35857380
23andMers35857380
23andMe allrs35857380
SNP Nexus

SNPshotrs35857380
SNPdbers35857380
MSV3drs35857380
GWAS Ctlgrs35857380
Max Magnitude0
OMIM141900
Desc
Variant0220
Relatedalso


ClinVar
Risk rs35857380(T;T)
Alt rs35857380(T;T)
Reference rs35857380(A;A)
Significance Other
Disease HEMOGLOBIN PHILLY
Variation info
Gene HBB
CLNDBN HEMOGLOBIN PHILLY
Reversed 1
HGVS NC_000011.9:g.5248015T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000016550.2,



[PMID 957431] Structure and function of haemoglobin Philly (Tyr C1 (35) beta replaced by Phe).


[PMID 5822575OA-icon.png] Hemoglobin Philly (beta 35 tyrosine phenylalanine): studies in the molecular pathology of hemoglobin.


[PMID 9877172] The artificial alpha1beta1-contact mutant hemoglobin, Hb Phe-35beta, shows only small functional abnormalities.


[PMID 11514675OA-icon.png] Site-directed mutations of human hemoglobin at residue 35beta: a residue at the intersection of the alpha1beta1, alpha1beta2, and alpha1alpha2 interfaces.