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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
TREX1 - Three Prime Repair Exonuclease 1
Alias:
CRV
AGS1
DRN3
HERNS
RVCLS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有3'核酸酶活性的核蛋白。编码的蛋白质可能在DNA修复中发挥作用,并作为DNA聚合酶的校对功能。这个基因的突变导致Aicardi-Goutieres综合征、寒疹狼疮、Cree脑炎和其他免疫系统疾病。可变剪接导致多个转录子变异体。[由RefSeq,2012年9月提供]
Related ID:
NCBI:11277
ENSEMBL:ENSG00000213689
HGNC:12269
UNIPROT:Q9NSU2
OMIM:606609
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11277
2
2
1816 bp
33.21
405
6
17
26
TREX1 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
Reset
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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