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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
GHRHR - Growth Hormone Releasing Hormone Receptor
Alias:
GRFR
GHRFR
IGHD4
IGHD1B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种生长激素释放激素受体。这种激素与受体的结合导致生长激素的合成和释放。这个基因的突变与孤立性生长激素缺乏症(IGHD)有关,也被称为信德侏儒症,这是一种以矮小身材为特征的疾病。[RefSeq,2010年6月提供]
Related ID:
NCBI:2692
ENSEMBL:ENSG00000106128
HGNC:4266
UNIPROT:Q02643
OMIM:139191
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2692
1
13
15576 bp
47.40
226
2
4
11
GHRHR 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
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
Related Drugs
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CAS Number
Status
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Link
No data available
References Literature
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