Description
gap junction protein, alpha 1, 43kDa [Source:HGNC Symbol;Acc:4274]
Gene Synonyms
AVSD3, CMDR, CX43, DFNB38, GJAL, HLHS1, HSS, ODD, ODDD, ODOD, SDTY3
Location
Chromosome 6: 121,756,838-121,770,873 forward strand.
GRCh37:CM000668.1
About this gene
This gene has 1 transcript (splice variant), 17 paralogues and is associated with 25 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000282561.3 | GJA1-001 | 3037 | 382aa | ENSP00000282561.3 | Protein coding | CCDS5123 | B4DI81 B4DMC9 B4DN50 P17302 | NM_000165.3 | GENCODE basic, |