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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
SLC14A2 - Solute Carrier Family 14 Member 2
Alias:
UT2
UTA
UTR
HUT2
UT-A2
hUT-A6
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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属于脲转运蛋白家族。在哺乳动物细胞中,脲是氮代谢的主要终产物,并在尿浓缩机制中扮演重要角色。这个蛋白质在肾脏内髓表达,并介导快速上皮脲转运穿过内髓收集管。已经发现了这个基因的可变剪接转录变异体。[由RefSeq,2011年9月提供]
Related ID:
NCBI:8170
ENSEMBL:ENSG00000132874
HGNC:10919
UNIPROT:Q15849
OMIM:601611
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8170
6
20
515726 bp
101.21
39
--
6
7
SLC14A2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
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References Literature
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