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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
SLC9A3 - Solute Carrier Family 9 Member A3
Alias:
NHE3
DIAR8
NHE-3
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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是一种上皮刷状缘Na/H交换蛋白,它利用内向的钠离子梯度将酸从细胞中排出。这个基因的缺陷是导致先天性分泌性钠腹泻的原因。这个基因的假基因存在于染色体10和22上。[RefSeq,2016年3月提供]
Related ID:
NCBI:6550
ENSEMBL:ENSG00000066230
HGNC:11073
UNIPROT:P48764
OMIM:182307
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6550
2
17
53994 bp
92.86
536
3
11
11
SLC9A3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
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Status
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Link
No data available
References Literature
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