splice donor site基本解释 剪接供体位点;供体位点;拼接供体位点 分词解释 splice绞接 donor捐赠者,[医]供血者,输血者 site地点,位置,场所猜你喜欢 delivery site交货地点:指商家或物流公司将货物送达的地点。 similar sites类似网站:指与某个特定网站在内容、功能、设计等方面相似或相同的其他网站。 active site...
1. 剪接提供讯号 ...的原因是染色体DNA上一个G→T的点突变,产生一个剪接提供讯号(splice donor site),使得位在突变点前的序列被接入了… 210.60.224.4|基于3个网页 2. 拼接供体位点 site-英汉词典-英中字典... ... specific site [医]特异位点splice donor site[医]拼接供体位点splice site [医]剪接位点...
splice donor siteexome sequencingfundus albipunctatusBackground : Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state ...
必应词典为您提供donor-splice-site的释义,网络释义: 供者剪切位点;供体位点;
BRCA2 Splice Donor Site Mutation (c.1909+2T>C) Reference Standard询价 产品描述 产品数据库CBP10466 Format Genomic DNA Description N/A Technical Data DNA Change: BRCA2 c.1909+2T>C AA Change N/A Mutation type Substitution - Missense Zygosity Heterozygous Allelic ...
The mutation c.9690 + 1G> A was a splicing-site mutation resulting in a G to A transition at the donor splice site of intron 59. Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Splice site RNAs (spli-RNAs, 17–18 nt) show precise mapping to the splice donor site of internal exons in animals. Similar to tiRNAs, spli-RNAs are weakly expressed, but display developmental and tissue-specific expression (Taft, Simons, et al., 2010). Additionally, they present 3′ ...
We evaluated the performance of SpTransformer on two tasks using the compiled test dataset: 1) splice site prediction in long sequences: the model took each pre-mRNA sequence as input and identified every splice acceptor and donor within a target region of 1000 nt. Given that most positions...
Splice_region: 变异发生在splice site区域内或者外显子的1-3碱基处或者内含子的3-8碱基处 Splice_Site return "Splice_Site" if( $effect =~ /^(splice_acceptor_variant|splice_donor_variant|transcript_ablation|exon_loss_variant)$/ ); Splice_Site 又细分到splice_acceptor_variant、splice_donor_variant、...
特点 BRCA2 Splice Donor Site Mutation (c.1909+2T>C) Reference Standard 详细内容 CBP10466 Format Genomic DNA Description N/A Technical Data DNA Change: BRCA2 c.1909+2T>C AA Change N/A Mutation type Substitution - Missense Zygosity Heterozygous Allelic Frequency 50% Type Splice_Site Tran...