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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
小鼠
Nphp1 - nephronophthisis 1 (juvenile) homolog (human)
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与多个过程,包括光感受器细胞外段组织;在照相机型眼睛的视网膜发育中;以及精母细胞分化。位于睫状体基部、细胞质和光感受器远侧连接纤毛。在多个结构中表达,包括中枢神经系统;生殖泌尿系统;肠道;呼吸系统;和白色脂肪。这个基因的人类同源物涉及巴特-比尔德综合征;尤贝特综合征4;森德-洛肯综合征;肾囊性肾病;和肾囊性肾病1。与人类NPHP1(肾囊性肾病1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:53885
ENSEMBL:ENSMUSG00000027378
UNIPROT:Q9QY53
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
53885
10
20
48182 bp
77.03
8
21
Nphp1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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References Literature
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IF
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