Variant ID | 24548 |
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Entrez Gene ID | 116461 |
Gene | TSEN15 (GeneCards) |
Location | hg19 1:184125186-184125186
hg38 1:184156052-184156052 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000001.10:g.184125186 A>G (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 249250621 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.3339 |
CADD Raw score (version 1.3) | -0.007328 (Deleterious) |
FATHMM raw prediction score | 0.08114 (Tolerated) |
Deleterious probability by DeFine | 0.0846 (Neutral) |
Entrez Gene ID | 116461 (NCBI Gene) |
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Official Gene Symbol | TSEN15 (GeneCards) |
Number of variants in TSEN15 in this database | 3 (view all the variants) |
Full name | tRNA splicing endonuclease subunit 15 |
Band | 1q25.3 |
Other IDs | Vega: OTTHUMG00000035461 OMIM: 608756 HGNC: HGNC:16791 Ensembl: ENSG00000198860 |
Other names | PCH2F, sen15, C1orf19 |
Summary | This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014] |
Individual ID | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |