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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
SLC34A1 - Solute Carrier Family 34 Member 1
Alias:
NPT2
FRTS2
SLC11
HCINF2
NAPI-3
NPTIIa
NPHLOP1
SLC17A2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
激活钠-磷酸盐对称载体活性。参与几个过程,包括磷酸盐离子内稳态;磷酸盐离子运输;和对铅离子的响应。位于几个细胞成分中,包括顶浆膜;有丝分裂纺锤体;和核斑点。与几种疾病有关,包括Fanconi综合征(多种);慢性肾病;遗传性低磷酸盐血症性佝偻病伴高钙尿症;低磷酸盐血症性肾结石/骨质疏松症1;和肾结石。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:6569
ENSEMBL:ENSG00000131183
HGNC:11019
UNIPROT:Q06495
OMIM:182309
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6569
2
13
14415 bp
68.94
349
12
7
8
SLC34A1 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
Reset
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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