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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
PCDH17 - Protocadherin 17
Alias:
PCH68
PCDH68
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Description
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于原粘附素基因家族,是粘附素超家族的子家族。编码的蛋白质包含六个细胞外的粘附素结构域,一个跨膜结构域,和一个与经典粘附素不同的细胞质尾。这个编码的蛋白质可能在大脑中建立和功能特定的细胞间连接中发挥作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:27253
ENSEMBL:ENSG00000118946
HGNC:14267
UNIPROT:O14917
OMIM:611760
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
27253
4
4
99204 bp
126.23
36
--
4
4
PCDH17 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
Detail
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Target
Residues
Reference
Score
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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
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Journal
Year
IF
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