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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
TOMT - Transmembrane O-methyltransferase
Alias:
COMT2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种儿茶酚-O-甲基转移酶,它催化S-腺苷-L-甲硫氨酸上的甲基基团转移到儿茶酚的羟基上,对于听觉和前庭功能是必不可少的。这个基因的突变与非综合征性耳聋有关。在这个基因和相邻的富含亮氨酸重复的51基因之间观察到读穿转录。第三个基因座(GeneID:220074)被定义为表示读穿转录本。[由RefSeq,2021年2月提供]
Related ID:
NCBI:120356740
ENSEMBL:ENSG00000284844
HGNC:55527
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
120356740
1
3
3673 bp
Unknown
113
2
8
--
TOMT 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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