rs35213748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs35213748(C;T) |
| Make rs35213748(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177008 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35213748 |
| dbSNP (classic) | rs35213748 |
| ClinGen | rs35213748 |
| ebi | rs35213748 |
| HLI | rs35213748 |
| Exac | rs35213748 |
| Gnomad | rs35213748 |
| Varsome | rs35213748 |
| LitVar | rs35213748 |
| Map | rs35213748 |
| PheGenI | rs35213748 |
| Biobank | rs35213748 |
| 1000 genomes | rs35213748 |
| hgdp | rs35213748 |
| ensembl | rs35213748 |
| geneview | rs35213748 |
| scholar | rs35213748 |
| rs35213748 | |
| pharmgkb | rs35213748 |
| gwascentral | rs35213748 |
| openSNP | rs35213748 |
| 23andMe | rs35213748 |
| SNPshot | rs35213748 |
| SNPdbe | rs35213748 |
| MSV3d | rs35213748 |
| GWAS Ctlg | rs35213748 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35213748(T;T) |
| Alt | rs35213748(T;T) |
| Reference | Rs35213748(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG HEMOGLOBIN M (GOTHENBURG) HEMOGLOBIN M (OSAKA) HEMOGLOBIN M (KISKUNHALAS) |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN M (BOSTON) HEMOGLOBIN GOTHENBURG HEMOGLOBIN M (GOTHENBURG) HEMOGLOBIN M (OSAKA) HEMOGLOBIN M (KISKUNHALAS) |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227007C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017098.2, RCV000017099.2, RCV000017100.2, RCV000017101.2, RCV000017102.2, |
[PMID 235745] High cooperativity of haemoglobin M Boston in the completely reduced state.
[PMID 4521212
] Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme.
[PMID 6255985] Proton nuclear magnetic resonance studies of hemoglobins M Boston (alpha 58E7 His leads to Tyr) and M Milwaukee (beta 67E11 Val leads to Glu): spectral assignments of hyperfine-shifted proton resonances and of proximal histidine (E7) NH resonances to the alpha and beta chains of normal human adult hemoglobin.
