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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
SNRPB - Small Nuclear Ribonucleoprotein Polypeptides B And B1
Alias:
COD
CCMS
SNRPB1
SmB/B'
Sm-B/B'
snRNP-B
SmB/SmB'
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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是几种常见的核蛋白质之一,这些蛋白质存在于U1、U2、U4/U6和U5小型核糖核蛋白颗粒(snRNPs)中。这些snRNPs参与前mRNA剪接,且编码的蛋白质也可能在mRNA剪接或snRNP结构中发挥作用。系统性红斑狼疮患者的自身抗体经常识别编码蛋白质上的表位。已发现这个基因的两个转录变异体,它们编码不同的异构体(B和B')。[RefSeq,2008年7月提供]
Related ID:
NCBI:6628
ENSEMBL:ENSG00000125835
HGNC:11153
UNIPROT:P14678
OMIM:182282
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6628
2
7
9148 bp
24.61
88
1
3
35
SNRPB 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
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Cell-specific RNA expression
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Interactions
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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