TEP1 Chromosome 14
Telomerase associated protein 1
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What This Gene Does
This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000129566
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146106964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201856732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35099769 | Health Risk | Conflicting classifications of pathogenicity | — |