Variant ID | 26293 |
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Entrez Gene ID | 442229 |
Gene | SLC25A51P1 (GeneCards) |
Location | hg19 6:67250217-67250217
hg38 6:66540324-66540324 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000006.11:g.67250217 G>A (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 | 171115067 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.2201 |
CADD Raw score (version 1.3) | -0.181606 (Deleterious) |
FATHMM raw prediction score | 0.10657 (Tolerated) |
Deleterious probability by DeFine | 0.302 (Neutral) |
Entrez Gene ID | 442229 (NCBI Gene) |
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Official Gene Symbol | SLC25A51P1 (GeneCards) |
Number of variants in SLC25A51P1 in this database | 38 (view all the variants) |
Full name | solute carrier family 25 member 51 pseudogene 1 |
Band | 6q12 |
Other IDs | HGNC: HGNC:23325 |
Other names | MCART3P, bA707M13.1 |
Summary | None |
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 |