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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
KIAA0319L - KIAA0319 Like
Alias:
AAVR
AAVRL
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
预测会在几个过程中上游或内部起作用,包括鞭毛精子的运动性;前顶体囊泡融合;以及病毒通过宿主细胞的受体介导内吞作用。位于高尔基体;细胞质囊泡;和核仁。[由基因资源联盟提供,2022年4月]
Related ID:
NCBI:79932
ENSEMBL:ENSG00000142687
HGNC:30071
UNIPROT:Q8IZA0
OMIM:613535
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79932
18
21
124170 bp
115.66
40
2
10
14
KIAA0319L Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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