Because SMN2 functions as a disease modifier, its accurate CN determination may have clinical relevance. In this study, we describe the development of array digital PCR (dPCR) to quantify SMN1 and SMN2 CNs in DNA samples using probes that can distinguish the single nucleotide difference between...
(in exons 7 and 8) are used to distinguish the telomeric (SMN1) from centromeric (SMN2) copy in DNA analysis. SMA of all types is associated with homozygous mutation (invariably deletions) of theSMN1gene. The centromericSMN2cannot compensate forSMN1deletion because the sequence difference in ...
Most carriers of autosomal recessive (SMA) have only one copy of because of gene deletions or gene conversions from to , which has only one base difference in coding sequence from . Using gene dosage analysis, we determined the copy numbers of and in the general population as well as in SM...
(SMN2 with a deletion of Exon7-8) from a whole-genome sequencing (WGS) BAM file. This caller works with standard WGS sequencing depth (>=30X), and is insensitive to various aligners (BWA and Isaac have been tested and no difference was observed). Please refer to ourpaperfor details ...
SMN1/2抗体 英文名称: Anti-SMN1/2 Antibody 产品规格: 50μl|100μl|150μl 发货周期: 1～3天 产品价格: 询价 本产品仅可用于科研实验,严禁用于其他非科研用途! 抗体名称Anti-SMN1/2 Antibody 指标别名C BCD541;Component of gems 1;Gemin 1;SMN;SMN1;SMN1;SMN;SMN2;SMNC;SMNT;Survival motor neuron ...
The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes. SMN1 copy-number results were compared between the NGS and quantitative polymerase chain reaction and/or multiplex ligation-dependent probe amplification. The NGS data set was also ...
产品摘要:SMN1+SMN2抗体应用于IH(P)免疫组化(石蜡);WB免疫印迹;ELISA,保存条件:连续使用时4°C存储,保质期六个月;长期存储时建议分装为10ul以上小包装-20°C存储,并避免反复冻融,保质期一年。SMN1+SMN2抗体货期短,品质保证,全国免邮,并提供抗体相关实验技术服务。
指标别名 C BCD541,Component of gems 1,Gemin 1,SMN,SMN1,SMN1,SMN,SMN2,SMNC,SMNT,Survival motor neuron protein 克隆性 Monoclonal 检验物种 human,mouse,rat 应用范围 WB,IHC,IP 基因名称 SMN1 克隆号 19S71 抗体来源 Rabbit 抗体类型 IgG 免疫原 A synthesized peptide derived from human SMN1 实际分子...
Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN). A critical nucleotide difference in SMN2 compared to SMN1 gene leads to an ine...
difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. it is thought that gene conversion events may...