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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
ANOS1 - Anosmin 1
Alias:
HH1
HHA
KAL
KMS
KAL1
ADMLX
WFDC19
KALIG-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种基因的突变导致X连锁性Kallmann综合症。编码的蛋白质在序列上与已知在神经细胞粘附和轴突迁移中起作用的蛋白质相似。此外,这种细胞表面蛋白质被N-糖基化,可能具有抗蛋白酶活性。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3730
ENSEMBL:ENSG00000011201
HGNC:6211
UNIPROT:P23352
OMIM:300836
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3730
2
14
203264 bp
76.11
198
4
--
26
ANOS1 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
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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