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Gene entry

MC1R

melanocortin 1 receptor

Chromosome
16
Cytoband
16q24.3
Variants (rsID)
14

MC1R is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 16 (region 16q24.3). Its official name is “melanocortin 1 receptor”. The reference table lists 14 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs11547464Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs1805005Benignsingle nucleotide variantSkin/hair/eye pigmentation 2, blond hair/fair skin|Melanoma, cutaneous malignant, susceptibility to, 5|Malignant tumor of breast
  • rs1805009Benignsingle nucleotide variantSkin/hair/eye pigmentation 2, red hair/fair skin|Tyrosinase-positive oculocutaneous albinism|Skin and Hair Hypopigmentation|Melanoma, cutaneous malignant, susceptibility to, 5|Melanoma
  • rs2228478Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs2228479Benignsingle nucleotide variantSkin/hair/eye pigmentation 2, red hair/fair skin|Skin/hair/eye pigmentation 2, blond hair/fair skin|Melanoma, cutaneous malignant, susceptibility to, 5
  • rs3212361Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs3212365Benignsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs1110400Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs1805006Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs1805008Conflicting interpretationssingle nucleotide variantSkin/hair/eye pigmentation 2, red hair/fair skin|OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF|Increased analgesia from kappa-opioid receptor agonist, female-specific|Melanoma, cutaneous malignant, susceptibility to, 5|Malignant tumor of breast
  • rs200000734Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5
  • rs201326893Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 5

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.