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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
RFC1 - Replication Factor C Subunit 1
Alias:
A1
RFC
PO-GA
RECC1
CANVAS
MHCBFB
RFC140
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码复制因子C的大亚基,这是一个五亚基的DNA聚合酶辅助蛋白,它是真核DNA复制和修复所必需的依赖DNA的ATP酶。大亚基作为DNA聚合酶的激活子,结合到引物的3'末端,并促进两条链的协调合成。它可能还有助于端粒稳定性。这个基因的不同剪接转录变异体已经注意到,它们编码不同的异构体。[RefSeq,2011年3月提供]
Related ID:
NCBI:5981
ENSEMBL:ENSG00000035928
HGNC:9969
UNIPROT:P35251
OMIM:102579
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5981
6
25
78907 bp
128.25
72
3
4
21
RFC1 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
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Cell-specific RNA expression
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Interactions
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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