Description
solute carrier family 12 (sodium/potassium/chloride transporter), member 1 [Source:HGNC Symbol;Acc:10910]
Gene Synonyms
BSC1, NKCC2
Location
Chromosome 15: 48,483,861-48,596,275 forward strand.
GRCh37:CM000677.1
About this gene
This gene has 11 transcripts (splice variants), 8 paralogues and is associated with 1 phenotype.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000396577.3 | SLC12A1-001 | 4708 | 1099aa | ENSP00000379822.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53940 | E9PDW4 O76030 | NM_001184832.1 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000380993.3 | SLC12A1-201 | 4707 | 1099aa | ENSP00000370381.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10129 | H0YLJ2 O76029 Q13621 | NM_000338.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000558405.1 | SLC12A1-006 | 3426 | 1099aa | ENSP00000453409.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10129 | H0YLJ2 O76029 Q13621 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000559641.1 | SLC12A1-005 | 2176 | 648aa | ENSP00000453230.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLJ2 O76029 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000330289.6 | SLC12A1-002 | 1764 | 430aa | ENSP00000331550.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | O76029 Q8IUN5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000561031.1 | SLC12A1-011 | 735 | 217aa | ENSP00000454178.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YNW0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000558805.1 | SLC12A1-012 | 582 | 103aa | ENSP00000454054.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561127.1 | SLC12A1-009 | 664 | 98aa | ENSP00000453602.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000559723.1 | SLC12A1-010 | 509 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000560692.1 | SLC12A1-008 | 8632 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558252.1 | SLC12A1-007 | 8614 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
