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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
RSPH6A - Radial Spoke Head 6 Homolog A
Alias:
RSP4
RSP6
RSHL1
RSPH4B
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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与海胆辐射轮辐头蛋白相似。辐射轮辐蛋白复合体构成真核鞭毛轴丝的一部分,位于轴丝的外双联微管环和中心微管对之间。在衣藻中,辐射轮辐蛋白被认为调节动力蛋白的活性和鞭毛弯曲模式的对称性。这个基因定位在19号染色体的一个与原发性鞭毛运动障碍2(CILD2)关联的区域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:81492
ENSEMBL:ENSG00000104941
HGNC:14241
UNIPROT:Q9H0K4
OMIM:607548
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81492
2
6
19596 bp
80.91
48
--
5
2
RSPH6A 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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Residues
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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
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Link
No data available
References Literature
Title
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Journal
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IF
No Data Found!
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