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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
HMSD - Histocompatibility Minor Serpin Domain Containing
Alias:
ACC6
ACC-6
HSMD-v
C18orf53
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个包含丝氨酸蛋白酶抑制剂结构的蛋白质。这个基因主要在髓系细胞中表达。这个基因中的一个多态性可能导致表达一个编码微小组织相容性抗原的剪接变异体。[RefSeq,2010年10月提供]
Related ID:
NCBI:284293
ENSEMBL:ENSG00000221887
HGNC:23037
UNIPROT:A8MTL9
OMIM:612086
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
284293
3
4
20348 bp
15.36
8
--
--
3
HMSD 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)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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