RNF216 R694C SNV/WT

Product Code: JIPSC003078

Overview

Genetics

Gene
RNF216
Condition
Hypogonadotropic hypogonadism, ataxia & dementia
Allele Characteristics
Autosomal Recessive
Derived from Cell Line
JIPSC001000
Other names (e.g. ClinVar)
R751C

Genomic Feature

Genomic Coordinate(GRCh38)
chr7:5641285 (-)
dbSNP
rs387907368
Genomic Sequence
AAATCTGAAGGCTGCAACCGCATGTCTTGC[C/T]GCTGTGGTGCCCAGATGTGCTACCTCTGTC

Gene Editing Reagents

Gene Editor
SpCas9
Protospacer Sequence
1_AACCGCATGTCTTGCCGCTG
Donor Template
1_GTTGGCAGAAATGGTCATATCCATTAATAGAAACTCGACAGAGGTAGCACATCTGGGCACCACAGCAGCAAGACATGCGGTTGCAGCCTTCAGATTTGAT

DNA Primers for Sequence Validation

PCR Forward
ACAGGGATTCCTATAACAAATAGAG
PCR Reverse
CTAGAACAAACTCACTTGGTCATGC
Sequencing Primer
ATCGGTCCAGAGAGAGCATC

Quality Control Data and Supplementary Information

Certification of Quality Analysis


Karyotype & Array Data


Sequence Maps


Sequencing

Lead Clone Sanger Sequencing
SangerPE

Related Cell Lines

RNF216 R694C SNV/WT

Pricing and Availability

Pricing per vial is $385 for not-for-profit entities and $770 for for-profit customers. When ordering any SNV and Revertant combination, a discount will be applied in the emailed order confirmation.


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