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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
REC8 - REC8 Meiotic Recombination Protein
Alias:
Rec8p
REC8L1
HR21spB
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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SMC(染色体结构维护)蛋白伴侣的kleisin家族成员。在卵母细胞和精母细胞的有丝分裂中,该蛋白定位到染色体的轴向元素。在鼠中,同源蛋白是减数分裂粘连复合物的关键组成部分,该复合物调节姐妹色氨酸粘连和同源染色体间的重组。已发现这个基因的多个可变剪接变体,它们编码相同的蛋白质。[RefSeq,2008年7月提供]
Related ID:
NCBI:9985
ENSEMBL:ENSG00000100918
HGNC:16879
UNIPROT:O95072
OMIM:608193
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9985
8
19
8844 bp
62.61
20
1
12
5
REC8 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
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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