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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
SLC24A1 - Solute Carrier Family 24 Member 1
Alias:
NCKX
RODX
NCKX1
CSNB1D
HsT17412
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码钾依赖性钠/钙交换蛋白家族的一员。编码的蛋白质在视网膜棒状和锥状光感受器中通过调节一个钙离子和一个钾离子的排出,以交换四个钠离子,在钠/钙交换中扮演重要角色。这个基因的突变可能与先天性静止性夜盲有关。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[由RefSeq提供,2011年12月]
Related ID:
NCBI:9187
ENSEMBL:ENSG00000074621
HGNC:10975
UNIPROT:O60721
OMIM:603617
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9187
29
10
49653 bp
121.37
626
5
4
9
SLC24A1 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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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
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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