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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
HYDIN - HYDIN Axonemal Central Pair Apparatus Protein
Alias:
CILD5
HYDIN1
HYDIN2
PPP1R31
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质可能参与纤毛运动。这个基因的突变导致常染色体隐性原发性纤毛运动障碍5,其特点是脑室中脑脊液积累。这个基因的副本已经在人类染色体1上被发现。[由RefSeq,2013年1月提供]
Related ID:
NCBI:54768
ENSEMBL:ENSG00000157423
HGNC:19368
UNIPROT:Q4G0P3
OMIM:610812
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54768
4
86
428639 bp
575.89
329
2
5
8
HYDIN 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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Interactions
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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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