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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
SF3A3 - Splicing Factor 3a Subunit 3
Alias:
PRP9
PRPF9
SAP61
SF3a60
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码剪接因子3a蛋白复合物的亚基3。剪接因子3a的异三聚体包括亚基1、2和3,对于体外将15S U2 snRNP转化为具有剪接活性的17S颗粒是必要的。亚基3通过其氨基末端与亚基1相互作用,而亚基3的锌指结构域在与15S U2 snRNP的结合中发挥作用。这个基因在20号染色体上有一个假基因。剪接的替代剪接产生了多个转录变体。[由RefSeq提供,2016年3月]
Related ID:
NCBI:10946
ENSEMBL:ENSG00000183431
HGNC:10767
UNIPROT:Q12874
OMIM:605596
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10946
2
17
33048 bp
58.85
9
--
3
26
SF3A3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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