| Variant ID | 19840 |
|---|---|
| Entrez Gene ID | 247 |
| Gene | ALOX15B (GeneCards) |
| Location | hg19 17:7958709-7958709
hg38 17:8055391-8055391 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.7958709 G>A (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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5037 |
| CADD Raw score (version 1.3) | -0.395628 (Deleterious) |
| FATHMM raw prediction score | 0.05634 (Tolerated) |
| Deleterious probability by DeFine | 0.0963 (Neutral) |
| Entrez Gene ID | 247 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ALOX15B (GeneCards) |
| Number of variants in ALOX15B in this database | 2 (view all the variants) |
| Full name | arachidonate 15-lipoxygenase, type B |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000108181 OMIM: 603697 HGNC: HGNC:434 Ensembl: ENSG00000179593 |
| Other names | 15-LOX-2 |
| Summary | This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |