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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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SNURF - SNRPN Upstream Open Reading Frame
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因位于染色体15上的Prader-Willi综合征关键区域。从这个基因产生的转录本在印迹中心起始,并且是父本印迹的。这些转录本可能是双顺反子的,并也在下游开放阅读框中编码SNRPN(小核核糖核蛋白多肽N)。这个基因代表的小蛋白质是由一个进化保守的上游开放阅读框编码的,并且定位在细胞核中。这个区域中存在大量的可选剪接和启动子用法,并且一些这些转录本的全长度尚未确定。印迹中心的变化与亲本印迹开关失败相关,这可能导致天使人综合征或Prader-Willi综合征。[由RefSeq,2017年3月提供]
Related ID:
NCBI:8926
ENSEMBL:ENSG00000273173
HGNC:11171
UNIPROT:Q9Y675
Basic Information
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8926
3
3
23737 bp
24.61
46
--
1
12
SNURF Genetics information (+)
GRCh38
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* This data comes from NCBI.
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