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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
C12orf57 - Chromosome 12 Open Reading Frame 57
Alias:
C10
GRCC10
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因在人类组织中普遍表达。它对于人类胼胝体的发展是必需的。这个基因的突变与Temtamy综合征(TEMTYS)有关。已经发现了这个基因的多个可变剪接转录变异体。[由RefSeq,2014年9月提供]
Related ID:
NCBI:113246
ENSEMBL:ENSG00000111678
HGNC:29521
UNIPROT:Q99622
OMIM:615140
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
113246
5
3
2571 bp
13.18
235
5
3
10
C12orf57 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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