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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
ANKS6 - Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6
Alias:
PKDR1
SAMD6
NPHP16
ANKRD14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含多个ankyrin重复序列和SAM结构域的蛋白质。人们认为这个蛋白质可能定位到初级纤毛的近端区域,并且可能参与肾脏和心血管发育。这个基因的突变已被证明导致一种肾盂肾炎(NPHP16)的形式,这是一种慢性肾小管间质性肾炎。[由RefSeq,2015年7月提供]
Related ID:
NCBI:203286
ENSEMBL:ENSG00000165138
HGNC:26724
UNIPROT:Q68DC2
OMIM:615370
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
203286
1
15
64547 bp
92.22
322
3
6
12
ANKS6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
No data available
References Literature
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