rs35857380
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs35857380(A;T) |
| Make rs35857380(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226785 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35857380 |
| dbSNP (classic) | rs35857380 |
| ClinGen | rs35857380 |
| ebi | rs35857380 |
| HLI | rs35857380 |
| Exac | rs35857380 |
| Gnomad | rs35857380 |
| Varsome | rs35857380 |
| LitVar | rs35857380 |
| Map | rs35857380 |
| PheGenI | rs35857380 |
| Biobank | rs35857380 |
| 1000 genomes | rs35857380 |
| hgdp | rs35857380 |
| ensembl | rs35857380 |
| geneview | rs35857380 |
| scholar | rs35857380 |
| rs35857380 | |
| pharmgkb | rs35857380 |
| gwascentral | rs35857380 |
| openSNP | rs35857380 |
| 23andMe | rs35857380 |
| SNPshot | rs35857380 |
| SNPdbe | rs35857380 |
| MSV3d | rs35857380 |
| GWAS Ctlg | rs35857380 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35857380(T;T) |
| Alt | rs35857380(T;T) |
| Reference | Rs35857380(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN PHILLY |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PHILLY |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248015T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016550.2, |
[PMID 957431] Structure and function of haemoglobin Philly (Tyr C1 (35) beta replaced by Phe).
[PMID 5822575
] Hemoglobin Philly (beta 35 tyrosine phenylalanine): studies in the molecular pathology of hemoglobin.
[PMID 9877172] The artificial alpha1beta1-contact mutant hemoglobin, Hb Phe-35beta, shows only small functional abnormalities.
[PMID 11514675] Site-directed mutations of human hemoglobin at residue 35beta: a residue at the intersection of the alpha1beta1, alpha1beta2, and alpha1alpha2 interfaces.
