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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
UPK3A - Uroplakin 3A
Alias:
UP3A
UPK3
UPIII
UPIIIA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码尿纤毛蛋白家族的一员,这是一个在膀胱上皮细胞顶表面形成复合物的跨膜蛋白家族。这个基因的突变可能与肾发育不良有关。已经描述了可变剪接的转录变异体。[由RefSeq,2009年11月提供]
Related ID:
NCBI:7380
ENSEMBL:ENSG00000100373
HGNC:12580
UNIPROT:O75631
OMIM:611559
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7380
2
6
10926 bp
30.67
62
1
4
7
UPK3A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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Status
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Link
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References Literature
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No Data Found!
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