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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
GET1 - Guided Entry Of Tail-anchored Proteins Factor 1
Alias:
WRB
CHD5
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因位于唐氏综合症(DS)先天性心脏病(CHD)候选区域。它编码一个作为受体的基本蛋白质,该受体促进尾锚定蛋白质插入内质网膜中。这个基因位于一个母系甲基化的差异甲基化区域(DMR);然而,其转录可能是双等位基因的,不是印记的。选择性剪接导致不同的转录变异体。染色体4上已经定义了一个假基因。[由RefSeq,2017年4月提供]
Related ID:
NCBI:7485
ENSEMBL:ENSG00000182093
HGNC:12790
UNIPROT:O00258
OMIM:602915
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
7485
6
5
48203 bp
19.78
33
--
5
11
GET1 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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