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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
SEZ6L2 - Seizure Related 6 Homolog Like 2
Alias:
BSRPA
PSK-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与癫痫相关的位于细胞表面的蛋白质。该基因位于16号染色体11.2区的候选自闭症谱系障碍(ASD)基因区域,尽管没有直接证据表明该基因与ASD有关。在肺癌中,该基因的表达增加,因此该蛋白质被认为是一种肺癌的新预后标志物。该基因的可变剪接导致多个转录变异体。[RefSeq,2011年8月提供]
Related ID:
NCBI:26470
ENSEMBL:ENSG00000174938
HGNC:30844
UNIPROT:Q6UXD5
OMIM:616667
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
26470
9
18
28392 bp
97.56
46
--
7
6
SEZ6L2 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
Reset
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
PMID
Journal
Year
IF
No Data Found!
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