LP193291-4
TMEM216 gene.c.218G>T
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Description
The TMEM216 (transmembrane protein 216) gene [HGNC Gene ID: 25018] is located on chromosome 11q13.1. This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010][NCBI Gene ID: 51259] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- TMEM216 gene c.218G>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-06-06
- Construct for LOINC Short Name
- TMEM216 c.218G>T
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- CodeSystem lookup
- https:
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TMEM216 基因.c.218G>T |
| es-ES | Spanish (Spain) | Gen TMEM216 c.218G>T |
| it-IT | Italian (Italy) | TMEM216, gene.c.218G>T Synonyms: Gene TMEM216.c.218G>T |
| tr-TR | Turkish (Turkey) | TMEM216 geni.c.218G>T |
| nl-NL | Dutch (Netherlands) | TMEM216-gen.c.218G>T Synonyms: TMEM216 gen.c.218G>T |
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