VCP R159H SNV/SNV

Product Code: JIPSC1068

Background

Genetics

Gene

VCP

Condition

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD)

Allele Charactertistics

Autosomal Dominant

View Information in ClinVar

Origin of Revertant

SNV/WT

Genomic Features

Genomic Coordinate (GRCh38)

chr9:35065351 (-)

dbSNP

rs121909335

Genomic Sequence

GAGACATTTTTCTTGTCCGTGGTGGGATGC[G/A]TGCTGTGGAGTTCAAAGTGGTGGAAACAGA
View With Genome Browser

Gene Editing Reagents

Nuclease

SpCas9

Protospacer Sequence

CCGTGGTGGGATGCGTGCTG

Donor Template

GGGCTAGGATCTGTTTCCACCACTTTGAACTCCACAGCATGCATCCCACCACGGACAAGAAAAATGTCTCCTGCGAGAG

DNA Primers for Sequence Validation

PCR Forward

GCACCCAGTCCTGACAGTTA

PCR Reverse

TCAGGTTTTGTTCACTGACCTCT

Sanger Sequencing Primer