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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
FAN1 - FANCD2 And FANCI Associated Nuclease 1
Alias:
KMIN
hFAN1
MTMR15
KIAA1018
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因在DNA链间交叉链接修复中起作用,并编码具有5' flap核酸酶和5'-3'核酸酶活性的蛋白质。这个基因的突变导致核型肥大性间质性肾炎。已经描述了编码不同异构体的可变剪接转录变异体。[由RefSeq,2016年2月提供]
Related ID:
NCBI:22909
ENSEMBL:ENSG00000198690
HGNC:29170
UNIPROT:Q9Y2M0
OMIM:613534
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22909
9
15
39257 bp
114.22
256
2
12
17
FAN1 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
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
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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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