Overview

Variant ID 26270
Entrez Gene ID 1268
Gene CNR1 (GeneCards)
Location hg19 6:89123936-89123936
hg38 6:88414217-88414217
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000006.11:g.89123936 G>T (Genome Assembly: GRCh37)

Other information

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 171115067

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.3179
CADD Raw score (version 1.3) -0.239381 (Deleterious)
FATHMM raw prediction score 0.04297 (Tolerated)
Deleterious probability by DeFine 0.1006 (Neutral)
Entrez Gene ID 1268 (NCBI Gene)
Official Gene Symbol CNR1 (GeneCards)
Number of variants in CNR1 in this database 6 (view all the variants)
Full name cannabinoid receptor 1
Band 6q15
Other IDs Vega: OTTHUMG00000015184
OMIM: 114610
HGNC: HGNC:2159
Ensembl: ENSG00000118432
Other names CB1, CNR, CB-R, CB1A, CB1R, CANN6, CB1K5
Summary This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID