Name | tyrosinase (oculocutaneous albinism IA) |
Symbol | TYR |
Aliases | OCA1A; OCAIA; Tyrosinase |
Gene Product | - tyrosinase (oculocutaneous albinism IA)
|
Category | - Polymorphism in Prostate cancer
|
UniGene | Hs.2053 |
OMIM | 606933 |
Locus | 7299 |
Summary | Tyrosinase; required for the synthesis of melanin pigment |
Gene Ontology | |
Expression | EST (45 ESTs, 15 libraries) |
Tissue ? |
Frequency ? |
Count ? |
brain (1/204) | | 1/362011 |
eye (2/33) | | 2/93836 |
foreskin (1/4) | | 7/20040 |
skin (5/31) | | 18/100815 |
testis (1/171) | | 1/117531 |
thyroid (1/24) | | 4/6853 |
uncharacterized tissue (4/1773) | | 12/713325 |
|
SAGE (6402515 tags, 125 libraries) |
Tissue ? |
Frequency ? |
Count ? |
blood (1/1) | | 1/48523 |
brain (15/19) | | 37/1313484 |
colon (8/8) | | 29/837842 |
eye (4/6) | | 9/593303 |
kidney (2/2) | | 4/115792 |
liver (1/1) | | 2/66861 |
lung (1/1) | | 2/178286 |
mammary gland (11/19) | | 26/661263 |
muscle (2/2) | | 3/107728 |
ovary (7/10) | | 14/310274 |
pancreas (5/8) | | 9/210721 |
prostate (9/13) | | 21/635505 |
skin (2/7) | | 3/56495 |
stomach (2/3) | | 11/136465 |
uncharacterized tissue (12/22) | | 29/890643 |
vascular (3/3) | | 4/239330 |
|
|
SNP | rs2002720 (A/G:intron);  rs574028 (A/G:intron);  rs2186640 (C/G:intron);  rs1939251 (C/T:coding-nonsyn);  rs516693 (T/G:intron);  rs1432447 (C/T:intron);  rs1800421 (G/A:coding-nonsyn);  rs591260 (T/G:intron);  rs1917310 (A/T:intron);  rs1060297 (A/G:intron);  rs2866554 (C/G:intron);  rs1393350 (A/G:intron);  rs1827430 (A/G:intron);  rs501301 (G/C:intron);  rs1847142 (A/G:intron);  rs625401 (T/C:intron);  rs535527 (A/T:intron);  rs609630 (G/T:intron);  rs603082 (T/G:intron);  rs1880437 (A/G:intron);  rs1892924 (C/T:intron);  rs1874823 (C/T:intron);  rs1783963 (A/C:intron);  rs694934 (T/A:intron);  rs2000553 (C/T:intron);  rs1942493 (C/T:intron);  rs636613 (T/G:intron);  rs594647 (G/A:intron);  rs877072 (C/T:intron);  rs2866491 (C/T:mrna-utr);  rs3049268 (-/GTT:intron);  rs2903328 (A/G:intron);  rs2866496 (A/G:intron);  rs1847136 (A/G:intron);  rs1987513 (C/T:intron);  rs2008320 (G/T:intron);  rs1851992 (A/G:intron);  rs1042602 (G/C:coding-nonsyn);  rs1804565 (T/C:mrna-utr);  rs687258 (G/A:locus-region);  rs1799989 (C/A:locus-region);  rs598769 (G/A:intron);  rs575429 (A/G:intron);  rs525883 (A/G:intron);  rs475629 (G/A:intron);  rs905281 (G/T:intron);  rs621313 (T/C:intron);  rs1502267 (C/T:mrna-utr);  rs2866539 (C/T:intron);  rs2155147 (G/A:intron);   |
Evidence | Polymorphism in Prostate cancer
|