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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
ASTL - Astacin Like Metalloendopeptidase
Alias:
SAS1B
OOMD11
OZEMA11
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测具有天冬氨酸型肽酶活性;谷氨酸型肽酶活性;和金属内肽酶活性。参与几个过程,包括负调控精子与透明带结合活性;正调控蛋白加工;和防止多精入卵。位于皮质颗粒和质膜中。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:431705
ENSEMBL:ENSG00000188886
HGNC:31704
UNIPROT:Q6HA08
OMIM:608860
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
431705
4
9
15747 bp
45.94
28
1
9
5
ASTL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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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