TF
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | transferrin |
| EntrezGene | 7018 |
| PheGenI | 7018 |
| VariationViewer | 7018 |
| ClinVar | TF |
| GeneCards | TF |
| dbSNP | 7018 |
| Diseases | TF |
| SADR | 7018 |
| HugeNav | 7018 |
| wikipedia | TF |
| TF | |
| gopubmed | TF |
| EVS | TF |
| HEFalMp | TF |
| MyGene2 | TF |
| 23andMe | TF |
| UniProt | P02787 |
| Ensembl | ENSG00000091513 |
| OMIM | 190000 |
| # SNPs | 21 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1049296 | 1.2 | 133,775,510 | |
| rs1130459 | 0 | 133,746,439 | |
| rs121918676 | 0 | 133,756,969 | |
| rs121918677 | 0 | 133,777,188 | |
| rs121918678 | 0 | 133,777,112 | |
| rs121918679 | 1 | 133,766,376 | |
| rs121918680 | 1 | 133,759,306 | |
| rs121918681 | 1 | 133,753,607 | |
| rs1525892 | 0 | 133,765,868 | |
| rs1799852 | 2.5 | 133,756,878 | |
| rs1799899 | 0 | 133,756,968 | |
| rs1867504 | 0 | 133,691,817 | |
| rs1880669 | 0 | 133,764,852 | |
| rs2692696 | 0 | 133,766,289 | |
| rs2718812 | 0 | 133,680,858 | |
| rs3811647 | 0 | 133,765,185 | |
| rs41295774 | 0 | 133,757,854 | |
| rs4481157 | 0 | 133,745,840 | |
| rs773139494 | 0 | 133,775,570 | |
| rs8177178 | 0 | 133,744,428 | |
| rs8177179 | 0 | 133,744,613 |
The transferrin TF gene encodes the proteins known as transferrins, which are iron-binding blood plasma glycoproteins that play a major role in the control of the level of free iron in the blood and between cells.Wikipedia
There are several variants linked to medical conditions and/or transferrin subtypes, including:
- rs1049296, the basis of the C1/C2 subtype
- rs121918676, the basis of the D1 subtype
- rs121918678, the Bv subtype
and among the variants associated with atransferrinemia, a rare form of anemia typically inherited as an autosomal recessive condition:
