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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
ZCCHC12 - Zinc Finger CCHC-type Containing 12
Alias:
SIZN
SIZN1
PNMA7A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码骨形态发生蛋白(BMP)信号通路的一个下游效应子。这个蛋白质包含一个锌指结构域,并作为转录共激活因子发挥作用。这个基因的变异可能与X连锁认知障碍有关。可变剪接产生了多种转录子变异体。[由RefSeq于2015年8月提供]
Related ID:
NCBI:170261
ENSEMBL:ENSG00000174460
HGNC:27273
UNIPROT:Q6PEW1
OMIM:300701
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
170261
2
4
3145 bp
45.37
16
--
3
3
ZCCHC12 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
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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
PMID
Journal
Year
IF
No Data Found!
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