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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
SEC16A - SEC16 Homolog A, Endoplasmic Reticulum Export Factor
Alias:
p250
SEC16L
KIAA0310
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个形成Sec16复合物的一部分的蛋白质。这个蛋白质在从内质网(ER)到高尔基体的蛋白质运输中发挥作用,并在过渡性ER处调节COPII囊泡的形成。可变剪接导致编码不同蛋白质异型体的多个转录变异体。[由RefSeq,2013年2月提供]
Related ID:
NCBI:9919
ENSEMBL:ENSG00000148396
HGNC:29006
UNIPROT:O15027
OMIM:612854
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9919
52
32
44636 bp
251.89
153
--
3
29
SEC16A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
MGI
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CAS Number
Status
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Link
No data available
References Literature
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