rs28928876
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs28928876(C;T) |
| Make rs28928876(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177095 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928876 |
| dbSNP (classic) | rs28928876 |
| ClinGen | rs28928876 |
| ebi | rs28928876 |
| HLI | rs28928876 |
| Exac | rs28928876 |
| Gnomad | rs28928876 |
| Varsome | rs28928876 |
| LitVar | rs28928876 |
| Map | rs28928876 |
| PheGenI | rs28928876 |
| Biobank | rs28928876 |
| 1000 genomes | rs28928876 |
| hgdp | rs28928876 |
| ensembl | rs28928876 |
| geneview | rs28928876 |
| scholar | rs28928876 |
| rs28928876 | |
| pharmgkb | rs28928876 |
| gwascentral | rs28928876 |
| openSNP | rs28928876 |
| 23andMe | rs28928876 |
| SNPshot | rs28928876 |
| SNPdbe | rs28928876 |
| MSV3d | rs28928876 |
| GWAS Ctlg | rs28928876 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28928876(A;A) rs28928876(G;G) rs28928876(T;T) |
| Alt | rs28928876(A;A) rs28928876(G;G) rs28928876(T;T) |
| Reference | Rs28928876(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN AUCKLAND HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE) HEMOGLOBIN M (OLDENBURG) HEMOGLOBIN M (SENDAI) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN AUCKLAND HEMOGLOBIN M (IWATE) HEMOGLOBIN M (KANKAKEE) HEMOGLOBIN M (OLDENBURG) HEMOGLOBIN M (SENDAI) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227094C>A; NC_000016.9:g.227094C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017239.2, RCV000017103.4, RCV000017104.4, RCV000017105.4, RCV000017106.4, |
[PMID 235432] Electron-spin resonance of nitrosyl haemoglobins: normal alpha and beta chains and mutants Hb M Iwate and Hb Zurich.
[PMID 3026948] Hemoglobin M Iwate is caused by a C----T transition in codon 87 of the human alpha 1-globin gene.
[PMID 3957697] Hb M Iwate [alpha (2)87His----Tyr beta 2]: de novo mutation in an Irish family.
[PMID 4164417] Heterogeneity of heavy (gamma) chain preparations from human gamma G-immunoglobulins.
[PMID 4625305] Congenital methemoglobinemia due to hemoglobin M.
[PMID 5326300] The amino acid substitution in hemoglobin M-Iwate.
[PMID 5946634] The structural abnormality of hemoglobin M Kankakee.
[PMID 9322075] Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry.
[PMID 18310146] A novel hemoglobin, Bonn, causes falsely decreased oxygen saturation measurements in pulse oximetry.
