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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
SLX4 - SLX4 Structure-specific Endonuclease Subunit
Alias:
FANCP
BTBD12
MUS312
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个蛋白质,作为多种结构特异性核酸内切酶的组装成分。这些核酸内切酶复合体是修复特定类型DNA损伤所必需的,并对细胞对复制叉失败的反应至关重要。在这个基因中发现的突变与Fanconi贫血症患者有关。[RefSeq, 2016年9月提供]
Related ID:
NCBI:84464
ENSEMBL:ENSG00000188827
HGNC:23845
UNIPROT:Q8IY92
OMIM:613278
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84464
4
15
30426 bp
200.01
1905
2
6
23
SLX4 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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