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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
GABRR3 - Gamma-aminobutyric Acid Type A Receptor Subunit Rho3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
伽马-氨基丁酸(GABA)是一种神经递质,在中枢神经系统中调节神经元的突触传递。这个基因编码三种相关亚基之一,它们可以单独或组合成五聚体来形成GABA(C)受体。在人类中,一些个体含有预测基因产物失活的单碱基多态性(dbSNP rs832032)。[由RefSeq,2012年1月提供]
Related ID:
NCBI:200959
ENSEMBL:ENSG00000183185
HGNC:17969
UNIPROT:A8MPY1
OMIM:618668
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
200959
1
10
50214 bp
54.27
21
--
3
2
GABRR3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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