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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
SS18L2 - SS18 Like 2
Alias:
KIAA-iso
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
关节滑液肉瘤最常在大关节周围的肢体发生。90%以上的病例具有反复和特定的染色体易位,t(X;18)(p11.2;q11.2),其中SS18基因(MIM 600192)的5’端与SSX1(MIM 312820)、SSX2(MIM 300192)或SSX4(MIM 300326)基因的3’端在框架内融合。SS18L2基因与SS18基因同源。[由OMIM于2002年7月提供]
Related ID:
NCBI:51188
ENSEMBL:ENSG00000008324
HGNC:15593
UNIPROT:Q9UHA2
OMIM:606473
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51188
2
3
15095 bp
8.84
3
--
2
2
SS18L2 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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
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Journal
Year
IF
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