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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
MAMLD1 - Mastermind Like Domain Containing 1
Alias:
CG1
F18
HYSP2
CXorf6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个类似于mastermind结构域的蛋白质。这个蛋白质可能作为转录共激活因子发挥作用。这个基因的突变是导致2型X连锁尿道下裂的原因。交替剪接导致多个转录变异体。[由RefSeq, 2010年4月提供]
Related ID:
NCBI:10046
ENSEMBL:ENSG00000013619
HGNC:2568
UNIPROT:Q13495
OMIM:300120
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10046
11
8
152602 bp
83.23
74
4
5
8
MAMLD1 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
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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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
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Journal
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IF
No Data Found!
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