Gene: RIMS1

Alternate names for this Gene: CORD7|RAB3IP2|RIM|RIM1

Gene Summary: The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q13

Description of this Gene: regulating synaptic membrane exocytosis 1

Type of Gene: protein-coding

Gene: LOC107986611

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs2807510 in RIMS1;LOC107986611 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2807510 in RIMS1;LOC107986611 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.