Variant ID | 26111 |
---|---|
Entrez Gene ID | 442229 |
Gene | SLC25A51P1 (GeneCards) |
Location | hg19 6:68043866-68043866
hg38 6:67333973-67333973 |
Disease | Asymptomatic |
Method | Single cell Sequencing Cell cloning |
Mutation(HGVS format) | NC_000006.11:g.68043866 G>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
---|---|
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 |
---|---|
EIGEN score | -0.4161 |
CADD Raw score (version 1.3) | -0.262523 (Deleterious) |
FATHMM raw prediction score | 0.06375 (Tolerated) |
Deleterious probability by DeFine | 0.0493 (Neutral) |
Entrez Gene ID | 442229 (NCBI Gene) |
---|---|
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 | 29217587.02 (view all the variants in this individual) |
---|---|
Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |