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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
EYS - Eyes Shut Homolog
Alias:
RP25
SPAM
EGFL10
EGFL11
C6orf178
C6orf179
C6orf180
bA74E24.1
dJ22I17.2
bA166P24.2
bA307F22.3
dJ1018A4.2
dJ303F19.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因的产物包含多个表皮生长因子(EGF)样结构和LamG结构域。该蛋白在视网膜的光感受器层表达,该基因在常染色体隐性遗传性视网膜色素变性中发生突变。已发现这个基因有多个编码不同异型的转录变异体。[RefSeq提供,2008年12月]
Related ID:
NCBI:346007
ENSEMBL:ENSG00000188107
HGNC:21555
UNIPROT:Q5T1H1
OMIM:612424
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
346007
4
43
1987247 bp
350.80
3669
8
--
11
EYS Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
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Abundance
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Interactions
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Acting
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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