BLOC1S1 H69P SNV/WT

Product Code: JIPSC1604

Background

Genetics

Gene

BLOC1S1

Condition

Pediatric regressive neurological condition - regulator of the immunoproteasome

Allele Charactertistics

No Data

View Information in ClinVar

Derived from Cell Line

JIPSC1000_KOLF2.1J

Genomic Features

Genomic Coordinate (GRCh38)

chr12:55716973

dbSNP

N/A

Genomic Sequence

CGACCTGCCTGACAGAAGCTTTGGTGGATC[A/C]CCTCAATGTGGGGTATGGACCTCTTATCAA
View With Genome Browser

Gene Editing Reagents

Nuclease

SpCas9

Protospacer Sequence

GATCACCTCAATGTGGGGTA

Donor Template

AGTGCCTAAACTTGGGCGGGGTGGGGAAGGAGGAAACTGATGTTGATAAGAGGTCCATACCCCACATTGAGGGGATCCACCAAAGCTTCTGTCAGGCAGG

DNA Primers for Sequence Validation

PCR Forward

GTTAAGAAATTTCGGCAACTAGCAG

PCR Reverse

ACAATGTTCTTTGCTTTTTCCCAAG

Sanger Sequencing Primer

CTACAAAGAGCTGGGAGGGG

Quality Control Data

Certification of Quality Analysis

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Sequencing