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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
IFT140 - Intraflagellar Transport 140
Alias:
RP80
MZSDS
SRTD9
WDTC2
gs114
c305C8.4
c380F5.1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码基杆内运输(IFT)复合体A的一个亚基。基杆内运输涉及初级纤毛的产生、吸收和信号传导。初级纤毛是大多数静止哺乳动物细胞表面的一种基于微管的感器官,从其环境中接收信号,如流体的流动、光或气味,并将这些信号传递给细胞核。在鼠中丢失相应的蛋白质导致肾囊肿疾病。[RefSeq,2012年6月提供]
Related ID:
NCBI:9742
ENSEMBL:ENSG00000187535
HGNC:29077
UNIPROT:Q96RY7
OMIM:614620
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9742
26
31
101646 bp
165.19
1606
15
8
21
IFT140 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
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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