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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
PGM3 - Phosphoglucomutase 3
Alias:
AGM1
PAGM
IMD23
PGM 3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码磷酸己糖突变家族的一员。编码的蛋白质通过催化葡萄糖-1-磷酸和葡萄糖-6-磷酸之间的互转变换,介导糖原的形成和利用。这个基因中的非同义单核苷酸多态性可能参与抵抗糖尿病性肾病和神经病变。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2010年12月提供]
Related ID:
NCBI:5238
ENSEMBL:ENSG00000013375
HGNC:8907
UNIPROT:O95394
OMIM:172100
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5238
10
13
45196 bp
59.85
333
3
4
20
PGM3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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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