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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
SLC3A2 - Solute Carrier Family 3 Member 2
Alias:
4F2
CD98
MDU1
4F2HC
4T2HC
NACAE
CD98HC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是溶质载体家族的成员,编码一个细胞表面的跨膜蛋白。这种蛋白质存在作为异源二聚物的重链,通过二硫键与几个可能的轻链之一共价结合。编码的转运蛋白在调节细胞内钙水平中发挥作用,并运输L型氨基酸。可变剪接转录变异体,编码不同的异构体,已经特征化。[由RefSeq,2010年11月提供]
Related ID:
NCBI:6520
ENSEMBL:ENSG00000168003
HGNC:11026
UNIPROT:P08195
OMIM:158070
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6520
4
9
32752 bp
67.99
36
--
8
61
SLC3A2 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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