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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
SORCS2 - Sortilin Related VPS10 Domain Containing Receptor 2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
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这个基因编码一个包含VPS10结构域的受体蛋白家族成员。VPS10结构域的名字来自酵母羧肽酶Y分选受体Vps10蛋白。这个基因家族成员很大,包含许多外显子,但CDS长度通常小于3700nt。非常大的内含子通常分隔编码VPS10结构域的外显子;其余的外显子由小得多的内含子分隔。这些基因在中枢神经系统中强烈表达。[由RefSeq,2008年7月提供]
Related ID:
NCBI:57537
ENSEMBL:ENSG00000184985
HGNC:16698
UNIPROT:Q96PQ0
OMIM:606284
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
57537
9
27
550290 bp
128.15
130
--
5
8
SORCS2 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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