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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
ALKBH8 - AlkB Homolog 8, TRNA Methyltransferase
Alias:
ABH8
TRM9
MRT71
TRMT9
TRMT9A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有tRNA(尿嘧啶)甲基转移酶活性;tRNA结合活性;锌离子结合活性。参与细胞对DNA损伤刺激的应答;tRNA甲基化;tRNA摆动尿苷酸修饰。位于细胞质和核团中。与常染色体隐性非综合征性智力残疾有关。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:91801
ENSEMBL:ENSG00000137760
HGNC:25189
UNIPROT:Q96BT7
OMIM:613306
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
91801
6
12
63009 bp
75.21
65
2
8
11
ALKBH8 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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