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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
CLCN6 - Chloride Voltage-gated Channel 6
Alias:
CLC-6
CONRIBA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码电压依赖性氯通道蛋白家族的一个成员。这个家族的成员可以作为氯通道或反向转运蛋白发挥作用。这个蛋白质主要定位在晚期溶酶体,并作为氯/氢反向转运蛋白发挥作用。剪接变异导致编码和非编码变体。已描述了额外的剪接变异,但其全长结构未知。[由RefSeq提供,2012年3月]
Related ID:
NCBI:1185
ENSEMBL:ENSG00000011021
HGNC:2024
UNIPROT:P51797
OMIM:602726
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1185
2
23
36940 bp
97.29
611
7
5
12
CLCN6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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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