| Variant ID | 27591 |
|---|---|
| Entrez Gene ID | 41 |
| Gene | ASIC1 (GeneCards) |
| Location | hg19 12:50467141-50467141
hg38 12:50073358-50073358 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000012.11:g.50467141 C>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2461 |
| CADD Raw score (version 1.3) | 2.140436 (Deleterious) |
| FATHMM raw prediction score | 0.15267 (Tolerated) |
| Deleterious probability by DeFine | 0.5734 (Deleterious) |
| Entrez Gene ID | 41 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASIC1 (GeneCards) |
| Number of variants in ASIC1 in this database | 2 (view all the variants) |
| Full name | acid sensing ion channel subunit 1 |
| Band | 12q13.12 |
| Other IDs | Vega: OTTHUMG00000169812 OMIM: 602866 HGNC: HGNC:100 Ensembl: ENSG00000110881 |
| Other names | ASIC, ACCN2, BNaC2 |
| Summary | This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |