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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
FUT1 - Fucosyltransferase 1 (H Blood Group)
Alias:
H
HH
HSC
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个高尔基体堆叠膜蛋白,参与H抗原前体的生成,而H抗原是可溶性A和B抗原合成最终步骤所必需的。这是两个编码半乳糖苷2-L-岩藻糖基转移酶酶的基因之一。这个基因的突变是导致H-孟买血型的原因。[RefSeq,2016年8月提供]
Related ID:
NCBI:2523
ENSEMBL:ENSG00000174951
HGNC:4012
UNIPROT:P19526
OMIM:211100
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2523
3
2
7348 bp
41.25
24
1
8
10
FUT1 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)
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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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Type
Name
MGI
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CAS Number
Status
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Link
No data available
References Literature
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