rs63750134
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs63750134(A;A) |
| Make rs63750134(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173595 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750134 |
| dbSNP (classic) | rs63750134 |
| ClinGen | rs63750134 |
| ebi | rs63750134 |
| HLI | rs63750134 |
| Exac | rs63750134 |
| Gnomad | rs63750134 |
| Varsome | rs63750134 |
| LitVar | rs63750134 |
| Map | rs63750134 |
| PheGenI | rs63750134 |
| Biobank | rs63750134 |
| 1000 genomes | rs63750134 |
| hgdp | rs63750134 |
| ensembl | rs63750134 |
| geneview | rs63750134 |
| scholar | rs63750134 |
| rs63750134 | |
| pharmgkb | rs63750134 |
| gwascentral | rs63750134 |
| openSNP | rs63750134 |
| 23andMe | rs63750134 |
| SNPshot | rs63750134 |
| SNPdbe | rs63750134 |
| MSV3d | rs63750134 |
| GWAS Ctlg | rs63750134 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750134(A;A) rs63750134(G;G) rs63750134(T;T) |
| Alt | rs63750134(A;A) rs63750134(G;G) rs63750134(T;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 3973024
] 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.
