LP62089-5
RHE gene
Active
Description
The RHE gene (Rh blood group, CcEe antigens) gene is located on chromosome 1p36.11. 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 variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in four transcript variants encoding four different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6006] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
Type | Source | Reference |
---|---|---|
Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- RHE gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2007-01-04
- Construct for LOINC Short Name
- RHE gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | RHE 基因 Synonyms: Rh 血型 |
et-EE | Estonian (Estonia) | RHE geen |
es-ES | Spanish (Spain) | Gen RHE |
it-IT | Italian (Italy) | RHE, gene Synonyms: Gene RHE |
tr-TR | Turkish (Turkey) | RHE geni |
ru-RU | Russian (Russian Federation) | RHE ген |
nl-NL | Dutch (Netherlands) | RHE-gen Synonyms: RHE gen |
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