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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
TSEN34 - TRNA Splicing Endonuclease Subunit 34
Alias:
LENG5
PCH2C
SEN34
SEN34L
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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tRNA剪接核酸酶的催化亚基,该酶催化前tRNA中的内切RNA的切除。该核酸酶复合物还与预mRNA的3’端处理因子相关。这个基因的突变导致神经疾病桥脑小脑发育不全2型。已经识别出多种可变剪接变异体,它们编码相同的蛋白质。[RefSeq,2009年10月提供]
Related ID:
NCBI:79042
ENSEMBL:ENSG00000170892
HGNC:15506
UNIPROT:Q9BSV6
OMIM:608754
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79042
7
4
5092 bp
33.65
145
2
--
9
TSEN34 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
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Target
Residues
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
Phase
Link
No data available
References Literature
Title
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Journal
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IF
No Data Found!
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