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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
SS18L1 - SS18L1 Subunit Of BAF Chromatin Remodeling Complex
Alias:
CREST
LP2261
SMARCL2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个钙响应的转激活子,它是神经元特异性的染色质重塑复合物的必要亚基。这个基因的结构与SS18基因相似。这个基因的突变与肌萎缩侧索硬化症(ALS)有关。已经发现了这个基因的替代剪接转录变异体。[RefSeq,2014年9月提供]
Related ID:
NCBI:26039
ENSEMBL:ENSG00000184402
HGNC:15592
UNIPROT:O75177
OMIM:606472
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26039
8
11
38746 bp
42.99
65
--
5
6
SS18L1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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