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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
SLC6A3 - Solute Carrier Family 6 Member 3
Alias:
DAT
DAT1
PKDYS
PKDYS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码多巴胺转运蛋白,属于钠离子和氯离子依赖的神经递质转运蛋白家族。这个基因的3'UTR包含一个40bp的串联重复序列,被称为可变数量串联重复或VNTR,可以存在3到11个拷贝。重复数量的变化与特发性癫痫、注意力缺陷多动障碍、酒精和可卡因依赖、帕金森病易感性以及尼古丁依赖的保护有关。[RefSeq,2009年11月提供]
Related ID:
NCBI:6531
ENSEMBL:ENSG00000142319
HGNC:11049
UNIPROT:Q01959
OMIM:126455
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6531
1
15
52647 bp
68.50
439
4
29
21
SLC6A3 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
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
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
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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