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54790 214133 Ensembl ENSG00000168769 ENSMUSG00000040943 UniProt Q6N021 Q4JK59 RefSeq (mRNA) NM_001127208 NM_017628 NM_001040400 NM_145989 NM_001346736 RefSeq (protein) NP_001120680 NP_060098 NP_001035490 NP_001333665 Location (UCSC) Chr 4: 105.15 – 105.28 Mb Chr 3: 133.17 – 133.25 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Tet methylcytosine dioxygenase 2 (TET2) is a human ...
80908 Ensembl ENSG00000175164 ENSG00000281879 ENSMUSG00000015787 UniProt P16442 P38649 RefSeq (mRNA) NM_020469 NM_030718 NM_001290444 RefSeq (protein) NP_065202 NP_001277373 NP_109643 Location (UCSC) Chr 9: 133.23 – 133.28 Mb Chr 2: 26.73 – 26.75 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Histo-blood group ABO system transferase is an enzyme with glycosyltransferase activity ...
The gene encodes a glycosyltransferase—that is, an enzyme that modifies the carbohydrate content of the red blood cell antigens. The gene is located on the long arm of the ninth chromosome (9q34). [32] The I A allele gives type A, I B gives type B, and i gives type O. As both I A and I B are dominant over i, only ii people have type O blood.
The term human blood group systems is defined by the International Society of Blood Transfusion (ISBT) as systems in the human species where cell-surface antigens—in particular, those on blood cells—are "controlled at a single gene locus or by two or more very closely linked homologous genes with little or no observable recombination between them", [1] and include the common ABO and Rh ...
Hemoglobin variants occur when there are mutations in specific genes that code for the protein chains, known as globins, which make up the hemoglobin molecule. This leads to amino acid substitutions in the hemoglobin molecule that could affect the structure, properties, and/or the stability of the hemoglobin molecule.
Blood group Rh(CE) polypeptide is a protein that in humans is encoded by the RHCE gene. [5] [6] RHCE has also recently been designated CD240CE (cluster of differentiation 240CE). The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with ...
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
The MHC gene family is divided into three subgroups: MHC class I, MHC class II, and MHC class III. Among all those genes present in MHC, there are two types of genes coding for the proteins MHC class I molecules and MHC class II molecules that are directly involved in the antigen presentation. These genes are highly polymorphic, 19031 alleles ...