Symbol
Name
ID
|
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Synonyms
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5330434M19Rik, BLOC-2, ru, ruby eye
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
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All sequences(23)
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Alleles
and
phenotypes
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All alleles(9) :
Spontaneous(8)
Chemically induced(1)
| Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (2)
Phenotype Images (2)
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Polymorphisms
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SNPs within 2kb(21 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
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cDNA source data(20)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(20)
cDNA(20)
Microarray probesets(1)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR017218 |
BLOC-2 complex, Hps6 subunit |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:14915
So M et al.,
"On the inheritance of ruby eye in mice"
Jpn J Genet 1926;4():1-9
(Latest)
J:151204
Graham GJ et al.,
"Endobrevin/VAMP-8-dependent dense granule release mediates thrombus formation in vivo."
Blood 2009 Jul 30;114(5):1083-90
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All references(65)
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Other
accession IDs
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MGD-MRK-14249, MGI:2442441, MGI:98204
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