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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
SRY - Sex Determining Region Y
Alias:
TDF
TDY
SRXX1
SRXY1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个无内含子的基因编码一个转录因子,属于高移动性组(HMG)-盒家族DNA结合蛋白质。这种蛋白质是睾丸决定因子(TDF),可以启动男性性别决定。这个基因的突变导致XY女性和性腺发育不良(Swyer综合征);Y染色体上包含这个基因的部分易位到X染色体上,会导致XX男性综合征。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6736
ENSEMBL:ENSG00000184895
HGNC:11311
UNIPROT:Q05066
OMIM:480000
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6736
1
1
828 bp
23.88
48
6
19
56
SRY Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Mutations
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Status
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Link
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References Literature
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