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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
CSF3R - Colony Stimulating Factor 3 Receptor
Alias:
SCN7
CD114
GCSFR
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是粒细胞集落刺激因子3的受体,粒细胞集落刺激因子3是一种控制粒细胞生成、分化和功能的细胞因子。编码的蛋白质是细胞因子受体家族的一员,也可能在某些细胞表面粘附或识别过程中发挥作用。已描述了可变剪接转录变体。这个基因的突变是Kostmann综合征,也称为严重先天性中性粒细胞减少症的原因。[由RefSeq提供,2010年8月]
Related ID:
NCBI:1441
ENSEMBL:ENSG00000119535
HGNC:2439
UNIPROT:Q99062
OMIM:138971
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1441
6
17
17272 bp
92.16
492
6
10
16
CSF3R Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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No data available
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No Data Found!
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