- accession:NM_001165927
- 基因别名:MKS1
- 基因描述:Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1650
- 翻译后氨基酸长度:549
- TranscriptVariant:This variant (2) represents use of an alternate promoter and 5' UTR and uses a distinct start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
- 基因简介:The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列