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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
SLC3A1 - Solute Carrier Family 3 Member 1
Alias:
D2H
ATR1
NBAT
RBAT
CSNU1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种II型膜糖蛋白,是肾氨基酸转运蛋白的成分之一,在肾小管和肠道中转运中和碱性氨基酸。这个基因的突变和缺失与胱氨酸尿症有关。已经描述了可变剪接的转录本,但其生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6519
ENSEMBL:ENSG00000138079
HGNC:11025
UNIPROT:Q07837
OMIM:104614
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6519
2
10
46958 bp
78.85
355
3
11
31
SLC3A1 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
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Interactions
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Acting
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Residues
Reference
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
Phase
Link
No data available
References Literature
Title
PMID
Journal
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IF
No Data Found!
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