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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
B9D1 - B9 Domain Containing 1
Alias:
B9
MKS9
EPPB9
MKSR1
JBTS27
MKSR-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
这个基因编码一个含有B9结构域的蛋白质,几个参与纤毛发生的基因之一。已经发现这个基因在患有Meckel综合征的家庭中的表达发生改变。Meckel综合征与至少六个不同的基因有关。这个基因位于染色体17上的Smith-Magenis综合征区域。[RefSeq,2016年3月提供]
Related ID:
NCBI:27077
ENSEMBL:ENSG00000108641
HGNC:24123
UNIPROT:Q9UPM9
OMIM:614144
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27077
17
7
43219 bp
22.77
198
4
5
6
B9D1 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
Regulation
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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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