rs33991910
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33991910(C;G) |
| Make rs33991910(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177406 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991910 |
| dbSNP (classic) | rs33991910 |
| ClinGen | rs33991910 |
| ebi | rs33991910 |
| HLI | rs33991910 |
| Exac | rs33991910 |
| Gnomad | rs33991910 |
| Varsome | rs33991910 |
| LitVar | rs33991910 |
| Map | rs33991910 |
| PheGenI | rs33991910 |
| Biobank | rs33991910 |
| 1000 genomes | rs33991910 |
| hgdp | rs33991910 |
| ensembl | rs33991910 |
| geneview | rs33991910 |
| scholar | rs33991910 |
| rs33991910 | |
| pharmgkb | rs33991910 |
| gwascentral | rs33991910 |
| openSNP | rs33991910 |
| 23andMe | rs33991910 |
| SNPshot | rs33991910 |
| SNPdbe | rs33991910 |
| MSV3d | rs33991910 |
| GWAS Ctlg | rs33991910 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991910(A;A) rs33991910(G;G) rs33991910(T;T) |
| Alt | rs33991910(A;A) rs33991910(G;G) rs33991910(T;T) |
| Reference | Rs33991910(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN J (CUBUJUQUI) HEMOGLOBIN J (CAMAGUEY) HEMOGLOBIN NUNOBIKI |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN J (CUBUJUQUI) HEMOGLOBIN J (CAMAGUEY) HEMOGLOBIN NUNOBIKI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227405C>A; NC_000016.9:g.227405C>G; NC_000016.9:g.227405C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017063.2, RCV000017061.2, RCV000017126.2, |
[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.
