rs1800496
This is a variant in the DRD2 gene that changes a proline to an serine.
▶ClinVar annotation
DRD2-associated Dystonia; Dystonic disorder; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶The relationship between polymorphisms of BDNFOS and BDNF genes and heroin addiction in the Han Chinese populationReviewTianbo Jin et al.(2016)· The Journal of Gene Medicine
This review examines neurogenetic and neuropharmacological correlates of opioid use disorder (OUD) with emphasis on ancestry-specific genetic risk profiles. The paper identifies multiple genes involved in the reward pathway (DRD2, DRD3, DRD4, OPRM1, OPRK1, OPRD1, BDNF, NRXN3, COMT, SLC6A4, KCNC1, KCNG2) and their variants associated with OUD susceptibility and treatment response across different ethnic populations, highlighting critical research disparities where African Americans and Hispanics have been underrepresented in genetic association studies.
About DRD2
This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
View all DRD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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