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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
TMIE - Transmembrane Inner Ear
Alias:
DFNB6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种跨膜内耳蛋白。研究表明,这个基因对于听觉毛细胞在耳蜗中的正常出生后成熟是必需的,包括立体纤毛束的正确发育。这个基因是多种负责隐性非综合征性耳聋(DFNB)的基因之一,也被称为常染色体隐性非综合征性听力损失(ARNSHL),这是先天性获得的遗传性听力损伤的最常见形式。[由RefSeq,2009年3月提供]
Related ID:
NCBI:259236
ENSEMBL:ENSG00000181585
HGNC:30800
UNIPROT:Q8NEW7
OMIM:607237
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
259236
3
4
17109 bp
17.24
114
3
12
3
TMIE Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
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Status
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Link
No data available
References Literature
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