Gene entry
MC2R
melanocortin 2 receptor
- Chromosome
- 18
- Cytoband
- 18p11.21
- Variants (rsID)
- 14
MC2R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18p11.21). Its official name is “melanocortin 2 receptor”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
6 reference-table entries with clinical significance.
- rs28926182Benignsingle nucleotide variantGlucocorticoid deficiency 1
- rs28926178Likely benignsingle nucleotide variantGlucocorticoid Deficiency|Glucocorticoid deficiency 1
- rs104894656Pathogenicsingle nucleotide variantGlucocorticoid deficiency 1
- rs104894657Pathogenicsingle nucleotide variantGlucocorticoid deficiency 1
- rs104894658Pathogenicsingle nucleotide variantGlucocorticoid deficiency 1|Glucocorticoid Deficiency
- rs104894661Pathogenicsingle nucleotide variantGlucocorticoid deficiency 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.