72872-5
MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Term Description
Variants -13910C>T (rs4988235) and -13915T>G (rs41380347) located in intron 13 of the MCM6 gene are associated with hypolactasia, or lactose intolerance.
Part Description
LP157539-0 MCM6 gene.c.-13910C>T & -13915T>G
The MCM6 gene encodes the DNA replication licensing factor MCM6 protein, one of the highly conserved mini-chromosome maintenance (MCM) proteins. The MCM6 gene is expressed at very high level. MCM6 produces, by alternative splicing, 3 different transcripts. Each transcript encodes a different protein isoform. MCM6 contains two of the regulatory regions for LCT, the gene encoding the protein lactase, located in two of the MCM6 introns, approximately 14 kb (-13910) and 22 kb (-22018) upstream of LCT. The (-13910) region, in particular, has been shown to function in vitro as an enhancer element capable of differentially activating transcription of LCT promoter. Mutations in these regions and others are associated with lactose tolerance.
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Source: Wikipedia
, MCM6 gene
Fully-Specified Name
- Component
- MCM6 gene.c.-13910C>T & -13915T>G
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- MCM6 -13910C>T + -13915T>G Bld/T
- Display Name
- MCM6 gene c.-13910C>T and -13915T>G Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MCM6 gene c.-13910C>T and -13915T>G, Blood or tissue specimen
Example Answer List: LL2424-1
Source: Dutch Society for Clinical Chemistry and Laboratory Medicine| Answer | Code | Score | Answer ID |
|---|---|---|---|
| -13910 C/C, -13915 T/G | LA19727-9 | ||
| -13910 C/T, -13915 T/G | LA19728-7 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.44
- Last Updated
- Version 2.44 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: MCM6-Genotypiserung (Laktoseintoleranz) |
| el-GR | Greek (Greece) | Γονίδιο MCM6.c.-13910C>T & -13915T>G: Synonyms: C G Prid Γονίδιο Γονίδιο MCM6.c.-13910C> |
| es-ES | Spanish (Spain) | Gen MCM6 c.-13910C>T y -13915T>G: |
| es-MX | Spanish (Mexico) | Generador MCM6.c.-13910C> T y -13915T> G: |
| fr-FR | French (France) | MCM6 gène mutations c.-13910C>T et c.-13915T>G: |
| it-IT | Italian (Italy) | MCM6 gene.c.-13910C>T & -13915T>G: Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | MCM6-gen.c.-13910C>T & -13915T>G: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | MCM6 gene.c.-13910C>T & -13915T>G: |
| ru-RU | Russian (Russian Federation) | MCM6 ген.c.-13910C>T & -13915T>G: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | MCM6 geni.c.-13910C>T & -13915T>G: |
| zh-CN | Chinese (China) | MCM6 基因.c.-13910C>T 与 -13915T>G: Synonyms: C 型; |
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