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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
SRSF6 - Serine And Arginine Rich Splicing Factor 6
Alias:
B52
SFRS6
SRP55
HEL-S-91
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质参与mRNA剪接,可能在决定可变剪接中发挥作用。编码的核蛋白属于剪接因子SR家族,已显示能与该家族的另一个成员SFRS12结合并调节其功能。可变剪接产生了多种转录变异体。此外,这个基因在17号染色体上发现了一个假基因,而在X染色体上发现另一个假基因。[RefSeq, 2010年9月提供]
Related ID:
NCBI:6431
ENSEMBL:ENSG00000124193
HGNC:10788
UNIPROT:Q13247
OMIM:601944
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6431
2
6
6348 bp
39.59
15
--
4
20
SRSF6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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Status
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Link
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References Literature
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