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 | Protein coding | CCDS53940 | E9PDW4 O76030 | NM_001184832.1 | GENCODE basic, |
ENST00000380993.3 | SLC12A1-201 | 4707 | 1099aa | ENSP00000370381.3 | Protein coding | CCDS10129 | H0YLJ2 O76029 Q13621 | NM_000338.2 | GENCODE basic, |
ENST00000558405.1 | SLC12A1-006 | 3426 | 1099aa | ENSP00000453409.1 | Protein coding | CCDS10129 | H0YLJ2 O76029 Q13621 | - | GENCODE basic, |
ENST00000559641.1 | SLC12A1-005 | 2176 | 648aa | ENSP00000453230.1 | Protein coding | H0YLJ2 O76029 | - | CDS 3' incomplete, | |
ENST00000330289.6 | SLC12A1-002 | 1764 | 430aa | ENSP00000331550.6 | Protein coding | O76029 Q8IUN5 | - | GENCODE basic, | |
ENST00000561031.1 | SLC12A1-011 | 735 | 217aa | ENSP00000454178.1 | Protein coding | H0YNW0 | - | GENCODE basic, | |
ENST00000558805.1 | SLC12A1-012 | 582 | 103aa | ENSP00000454054.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000561127.1 | SLC12A1-009 | 664 | 98aa | ENSP00000453602.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000559723.1 | SLC12A1-010 | 509 | No protein | - | Processed transcript | - | - | - | |
ENST00000560692.1 | SLC12A1-008 | 8632 | No protein | - | Retained intron | - | - | - | |
ENST00000558252.1 | SLC12A1-007 | 8614 | No protein | - | Retained intron | - | - | - |