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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
OPN1SW - Opsin 1, Short Wave Sensitive
Alias:
BCP
BOP
CBT
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于G-蛋白偶联受体1家族,视紫红子家族。它编码蓝色锥状色素基因,是三种锥状光感受器中的一种,负责正常的颜色视觉。这个基因的缺陷是导致三色盲(三色视盲)的原因。受影响的个体缺乏蓝色和黄色的感觉机制,而保留红色和绿色的机制。缺陷的蓝色视觉是特征。[由RefSeq,2008年7月提供]
Related ID:
NCBI:611
ENSEMBL:ENSG00000128617
HGNC:1012
UNIPROT:P03999
OMIM:613522
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
611
1
5
3310 bp
Unknown
238
1
6
--
OPN1SW Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
Detail
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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