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中文人类
SPATA7 - Spermatogenesis Associated 7
Alias:
HSD3
LCA3
RP94
HSD-3.1
HEL-S-296
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这个基因最初从睾丸中分离出来，也在视网膜中表达。这个基因的突变与Leber先天性夜盲症和青少年性色素变性有关。已经发现这个基因的不同剪接转录变异体编码不同的异构体。[RefSeq,2010年5月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
SPATA7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
