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Common MC1R (melanocortin 1 receptor) gene (chromosome 16q24.3) variants:
 
Common MC1R (melanocortin 1 receptor) gene (chromosome 16q24.3) variants:
 +
* N29insA - red
 +
* Val60Leu (rs1805005) - blonde
 +
* Asp84Glu (rs1805006)
 +
* Val92Met (rs2228479) - red
 
* Arg151Cys (rs1805007) - red
 
* Arg151Cys (rs1805007) - red
 +
* Y152OCH
 +
* IIe155Thr (rs1110400)
 
* Arg160Trp (rs1805008) - red
 
* Arg160Trp (rs1805008) - red
* Asp294His (rs1805009) - red
 
 
* Arg142His (rs11547464) - red
 
* Arg142His (rs11547464) - red
* Val60Leu (rs1805005) - blonde
 
* Val92Met (rs2228479) - red
 
 
* Arg163Gln (rs885479) - blonde
 
* Arg163Gln (rs885479) - blonde
 
* His260Pro
 
* His260Pro
* Asp84Glu (rs1805006)
+
* Asp294His (rs1805009) - red
 
* 537insC
 
* 537insC
* IIe155Thr (rs1110400)
 
 
* rs8045560
 
* rs8045560
 
* rs3212346
 
* rs3212346
* Y152OCH
 
* N29insA - red
 
 
Uncommon variants:
 
Uncommon variants:
 
* Arg307Gly - Neanderthal variant
 
* Arg307Gly - Neanderthal variant
  
OCA2 gene variants:
+
OCA2 gene (chromosome 15q11.2–12) variants:
 
* rs1800407 - red
 
* rs1800407 - red
 
* rs1800401
 
* rs1800401
Zeile 68: Zeile 68:
 
* rs4959270 - black
 
* rs4959270 - black
  
TYRP1 gene variants:
+
TYRP1 gene (chromosome 9p23) variants:
 
* rs1408799
 
* rs1408799
 
* rs2733832
 
* rs2733832
 
* rs683
 
* rs683
 +
 +
TYRP2 gene (chromosome 13q31–32) variants:
  
 
TPCN2 gene variants:
 
TPCN2 gene variants:
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* rs1011176
 
* rs1011176
  
TYR gene variants:
+
TYR gene (chromosome 11q14–21) variants:
* rs1042602
+
* Ser192Tyr (rs1042602)
 +
* Tyr192Ser - albino?
 +
* Arg402Gln (rs1126809) - albino?
 
* rs1393350 - brown
 
* rs1393350 - brown
  

Version vom 11. April 2012, 15:46 Uhr

Melanin levels (only two of those can be on "high" at once, one from the father and one from the mother):

  • Black Eumelanin (white to black)
  • Brown Eumelanin (white to yellowish brown)
  • Pheomelanin (white to red) - MC1R gene, alleles Arg151Cys, Arg160Trp, Asp294His, Arg142His - also inhibit melanin production in skin, resulting in a paler skin.

Typical combinations:

  • Black Eumelanin only -> Black
  • Brown Eumelanin only -> Brown
  • Pheomelanin only -> Red
  • Black Eumelanin & Brown Eumelanin -> Dark Brown
  • Black Eumelanin & Pheomelanin -> Chestnut Brown
  • Brown Eumelanin & Pheomelanin -> Auburn
  • low amount of all -> Blonde
  • negligable amount of all -> White

Common MC1R (melanocortin 1 receptor) gene (chromosome 16q24.3) variants:

  • N29insA - red
  • Val60Leu (rs1805005) - blonde
  • Asp84Glu (rs1805006)
  • Val92Met (rs2228479) - red
  • Arg151Cys (rs1805007) - red
  • Y152OCH
  • IIe155Thr (rs1110400)
  • Arg160Trp (rs1805008) - red
  • Arg142His (rs11547464) - red
  • Arg163Gln (rs885479) - blonde
  • His260Pro
  • Asp294His (rs1805009) - red
  • 537insC
  • rs8045560
  • rs3212346

Uncommon variants:

  • Arg307Gly - Neanderthal variant

OCA2 gene (chromosome 15q11.2–12) variants:

  • rs1800407 - red
  • rs1800401
  • rs16950821
  • rs7174027
  • rs4778138 - brown
  • rs4778241
  • rs7495174

ASIP (agouti signaling protein) gene variants:

  • rs1015362 - blonde-red
  • rs6058017
  • rs2378249

HERC2 (hect domain and RLD 2) gene variants:

  • rs12913832 - black
  • rs7183877
  • rs11635884
  • rs916977 - red
  • rs8039195 - red

SLC45A2 gene variants:

  • rs16891982 - black
  • rs28777 - black
  • rs26722 - black

IRF4 gene variants:

  • rs12203592 - black
  • rs9378805

EXOC2 gene variants:

  • rs4959270 - black

TYRP1 gene (chromosome 9p23) variants:

  • rs1408799
  • rs2733832
  • rs683

TYRP2 gene (chromosome 13q31–32) variants:

TPCN2 gene variants:

  • rs35264875
  • rs3829241
  • rs2305498
  • rs1011176

TYR gene (chromosome 11q14–21) variants:

  • Ser192Tyr (rs1042602)
  • Tyr192Ser - albino?
  • Arg402Gln (rs1126809) - albino?
  • rs1393350 - brown

KITLG gene variants:

  • rs12821256

SLC24A4 gene variants:

  • rs12896399
  • rs4904868 - blonde
  • rs2402130 - dark blonde