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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
HBB - Hemoglobin Subunit Beta
Alias:
ECYT6
CD113t-C
beta-globin
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
α(HBA)和β(HBB)基因座决定了成人血红蛋白Hb A中两种多肽链的结构。正常的成人血红蛋白四聚体由两条α链和两条β链组成。突变β珠蛋白导致镰状细胞贫血。β链的缺失导致β-零-地中海贫血。可检测到的β珠蛋白减少导致β+地中海贫血。β珠蛋白簇中的基因顺序为5'-ε-γ-G-γ-A-δ-β-3'[由RefSeq,2008年7月提供]。
Related ID:
NCBI:3043
ENSEMBL:ENSG00000244734
HGNC:4827
UNIPROT:P68871
OMIM:141900
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3043
1
3
1608 bp
16.00
1559
31
11
139
HBB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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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
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Type
Name
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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