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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
SSR4 - Signal Sequence Receptor Subunit 4
Alias:
CDG1Y
TRAPD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码转运蛋白复合物的delta亚基,该复合物涉及将蛋白质穿越内质网膜。编码的蛋白质位于Xq28区域,并与异柠檬酸脱氢酶3(NAD+)的γ基因以紧凑的头对头方式排列。这两个基因都由嵌入CpG的双正向启动子驱动。交替剪接导致多个转录变异体。[RefSeq,2011年3月提供]
Related ID:
NCBI:6748
ENSEMBL:ENSG00000180879
HGNC:11326
UNIPROT:P51571
OMIM:300090
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6748
5
6
4354 bp
19.00
80
2
2
10
SSR4 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
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Abundance
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Interactions
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Acting
Regulation
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Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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