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rs63750134

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs63750134(A;A)
Make rs63750134(A;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position173595
GeneHBA2
is asnp
is mentioned by
dbSNPrs63750134
ebirs63750134
HLIrs63750134
Exacrs63750134
Varsomers63750134
Maprs63750134
PheGenIrs63750134
hapmaprs63750134
1000 genomesrs63750134
hgdprs63750134
ensemblrs63750134
gopubmedrs63750134
geneviewrs63750134
scholarrs63750134
googlers63750134
pharmgkbrs63750134
gwascentralrs63750134
openSNPrs63750134
23andMers63750134
23andMe allrs63750134
SNP Nexus

SNPshotrs63750134
SNPdbers63750134
MSV3drs63750134
GWAS Ctlgrs63750134
Max Magnitude0
OMIM141800
Desc
Variant0062
Relatedalso
OMIM141800
Desc
Variant0064
Relatedalso
OMIM141800
Desc
Variant0109
Relatedalso
ClinVar
Risk rs63750134(A,G,T;A,G,T)
Alt rs63750134(A,G,T;A,G,T)
Reference rs63750134(C;C)
Significance Untested
Disease
Variation info
Gene HBA2
CLNDBN
Reversed 0
HGVS NC_000016.9:g.223594C>A; NC_000016.9:g.223594C>G; NC_000016.9:g.223594C>T
CLNSRC
CLNACC


[PMID 901812] Chemical characterization of a new haemoglobin variant haemoglobin J Cubujuqui (alpha2141(HC3)Arg replaced by Ser beta2).


[PMID 7338473] Hemoglobin Cubujuqui (alpha 141 Arg-Ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin.


[PMID 640841] Hb J Camaguey alpha 2 141(HC3) Arg replaced by Gly beta 2: a new abnormal human hemoglobin.


[PMID 1787099] Hb J-Camaguey [alpha 141(HC3)Arg----Gly] associated with alpha-thalassemia-1 in an Australian family.


[PMID 6480361] A case of Hb J-Camaguey or alpha 2141(HC3)Arg----Gly beta 2 in a Chinese family.


[PMID 8537233] Detection of Hb J-Camaguey [alpha 141(HC3)Arg-->Gly] in three Spanish families.


[PMID 3973024OA-icon.png] A new hemoglobin variant, hemoglobin Nunobiki [alpha 141 (HC3) Arg----Cys]. Notable influence of the carboxy-terminal cysteine upon various physico-chemical characteristics of hemoglobin.