| Variant ID | 1535 |
|---|---|
| Entrez Gene ID | 57468 |
| Gene | SLC12A5 (GeneCards) |
| Location | hg19 20:44667433-44667433
hg38 20:46038794-46038794 |
| Disease | Asymptomatic |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.44667433_44667433 del (Genome Assembly: hg19) |
| Exon or Intron | Upstream |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_001134771.1 |
| mRNA length | 6066 |
| Reference length | 63025520 |
| Deleterious probability by DeFine | 0.5212 (Deleterious) |
|---|
| Entrez Gene ID | 57468 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC12A5 (GeneCards) |
| Number of variants in SLC12A5 in this database | 2 (view all the variants) |
| Full name | solute carrier family 12 member 5 |
| Band | 20q13.12 |
| Other IDs | Vega: OTTHUMG00000032638 OMIM: 606726 HGNC: HGNC:13818 Ensembl: ENSG00000124140 |
| Other names | KCC2, EIG14, hKCC2, EIEE34 |
| Summary | K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008] |
| Individual ID | 29283202.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29283202 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29283202 |
|---|---|
| Title | Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders. |
| Journal | Psychiatry Clin Neurosci |
| Publication date | 2018.04 |
| Disease | Asymptomatic |
| Population | Caucasian;Japanese |
| Number of cases | cases of unknown sex: 3; |