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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
Rpgrip1 - retinitis pigmentosa GTPase regulator interacting protein 1
Alias:
nmf247
0610005A07Rik
4930401L23Rik
4930505G06Rik
A930002K18Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
在眼睛发育的上游或内部发挥作用;神经前体细胞增殖;和视觉感知。位于轴丝和光感受器远侧连接纤毛中。在大脑;大脑皮质;光感受器层外段;视网膜外核层;和端脑室层中表达。用于研究Leber先天性夜盲6。这个基因的人类同源物涉及Leber先天性夜盲6;Leber遗传性视神经病变;圆锥-杆状营养不良13;和视网膜色素变性。与人类RPGRIP1(RPGR相互作用蛋白1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:77945
ENSEMBL:ENSMUSG00000057132
UNIPROT:Q9EPQ2
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
77945
12
25
57099 bp
152.00
6
9
Rpgrip1 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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