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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
RBM12 - RNA Binding Motif Protein 12
Alias:
SWAN
SCZD19
HRIHFB2091
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有几个RNA结合基序、潜在的跨膜结构域和富含脯氨酸区域的蛋白质。这个基因和copine I基因在20q11.21的地图位置重叠。5'UTR中的替代剪接导致四个转录变异体。所有变异体都编码相同的蛋白质。[由RefSeq,2010年11月提供]
Related ID:
NCBI:10137
ENSEMBL:ENSG00000244462
HGNC:9898
UNIPROT:Q9NTZ6
OMIM:607179
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10137
4
3
15976 bp
97.39
42
1
2
17
RBM12 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
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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
Year
IF
No Data Found!
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