DNMT1 Y511C REV/WT

Product Code: JIPSC1208

Background

Genetics

Gene

DNMT1

Condition

Sensory neuropathy with dementia & hearing loss

Allele Charactertistics

Autosomal Dominant

View Information in ClinVar

Derived from Cell Line

JIPSC1182_DNMT1_Y511C_SNV/WT

Genomic Features

Genomic Coordinate (GRCh38)

chr19:10155017 (-)

dbSNP

rs199473690

Genomic Sequence

AATACATTCTGATGGATCCCAGTCCCGAGT[A/G]TGCGCCCATATTTGGGCTGATGCAGGAGAA
View With Genome Browser

Gene Editing Reagents

Nuclease

SpCas9

Protospacer Sequence

CCCAAATATGGGCGCACACT

Donor Template

TTCCACACCTCCTCTGTTCACCCCAGCATTTGCCGAATACATTCTGATGGATCCCAGTCCCGAGTATGCGCCCATATTTGGGCTGATGCAGGAGAAGATC

DNA Primers for Sequence Validation

PCR Forward

TTAGTTATGACTGGCTCTGGAACTG

PCR Reverse

CAATTTGCTCTGCGAAGAAAGTATC

Sanger Sequencing Primer

ACATTTGGGTACGGGATGAC

Quality Control Data

Certification of Quality Analysis

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Sequencing