| Variant ID | 14232 |
|---|---|
| Entrez Gene ID | 221074 |
| Gene | SLC39A12 (GeneCards) |
| Location | hg19 10:18374133-18374133
hg38 10:18085204-18085204 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.18374133 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0828 |
| CADD Raw score (version 1.3) | 0.152089 (Deleterious) |
| FATHMM raw prediction score | 0.09769 (Tolerated) |
| Deleterious probability by DeFine | 0.2012 (Neutral) |
| Entrez Gene ID | 221074 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC39A12 (GeneCards) |
| Number of variants in SLC39A12 in this database | 2 (view all the variants) |
| Full name | solute carrier family 39 member 12 |
| Band | 10p12.33 |
| Other IDs | Vega: OTTHUMG00000017759 OMIM: 608734 HGNC: HGNC:20860 Ensembl: ENSG00000148482 |
| Other names | ZIP-12, LZT-Hs8, bA570F3.1 |
| Summary | Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] |
| Individual ID | 29217584.09 (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; |