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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
CDHR1 - Cadherin Related Family Member 1
Alias:
RP65
PRCAD
CORD15
PCDH21
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于钙依赖性细胞粘附分子的钙粘蛋白超家族。编码的蛋白质是光感受器特异性的钙粘蛋白,在外段盘形态发生中发挥作用。这个基因的突变与遗传性视网膜营养不良有关。已经发现了编码不同异构体的可变剪接转录变异体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:92211
ENSEMBL:ENSG00000148600
HGNC:14550
UNIPROT:Q96JP9
OMIM:609502
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92211
7
17
25085 bp
93.59
836
5
4
12
CDHR1 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
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Alphabetical
Cell-specific RNA expression
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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