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- accession：NM_001134832
- 基因别名：AHI1
- 基因描述：Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 4, mRNA.
- 载体：现货载体
- CDS区长度：3162
- 翻译后氨基酸长度：1053
- TranscriptVariant：This variant (4) differs in the 5' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.
- 基因简介：This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
- 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
