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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
小鼠
Snrpn - small nuclear ribonucleoprotein N
Alias:
SMN
Peg4
sm-D
HCERN3
snRNP-N
2410045I01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因座代表一个父本表达印记基因,编码小核核糖核蛋白复合物的组成部分,该复合物在预mRNA加工中发挥作用。该区域的基因组和遗传变化导致生长缺陷和致死性;人类中的相应区域是Prader-Willi综合征的关键区域。替代启动子使用和替代剪接导致编码相同蛋白质的转录本变异体的多样性。转录本可能是双顺反子的,也可以编码上游阅读框蛋白(Snurf),该蛋白来自上游开放阅读框。此外,小核仁RNA宿主基因14(Snhg14)的长剪接转录本可能起源于该座位的启动子,并包含与该基因共享的外显子。[RefSeq,2017年3月提供]
Related ID:
NCBI:20646
ENSEMBL:ENSMUSG00000102252
UNIPROT:P63163
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20646
9
10
467683 bp
24.61
9
13
Snrpn Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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IF
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