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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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人类
EXT2 - Exostosin Glycosyltransferase 2
Alias:
SOTV
SSMS
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码两种糖基转移酶之一,涉及肝素硫酸酯生物合成的链延长步骤。这个基因的突变导致Ⅱ型多发性外生骨疣。这个基因的不同剪接转录变异体已经注意到,这些变异体编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2132
ENSEMBL:ENSG00000151348
HGNC:3513
UNIPROT:Q93063
OMIM:608210
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2132
9
14
156285 bp
82.25
662
4
2
24
EXT2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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