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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
TMC2 - Transmembrane Channel Like 2
Alias:
C20orf145
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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蛋白,对于内耳耳蜗毛细胞中的机械转导是必需的。这个基因的突变可能导致遗传性平衡和听力障碍。[RefSeq,2015年8月提供]
Related ID:
NCBI:117532
ENSEMBL:ENSG00000149488
HGNC:16527
UNIPROT:Q8TDI7
OMIM:606707
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
117532
2
20
107008 bp
102.61
65
--
6
4
TMC2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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References Literature
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