Resource Summary Report  New Search

URL: http://www.addgene.org/110215

Proper Citation: RRID:Addgene_110215

Insert Name: SPRTN

Organism: Homo sapiens

Bacterial Resistance: Ampicillin

Defining Citation: PMID:25261934

Vector Backbone Description: Backbone Marker:Invitrogen; Vector Backbone:pCDNA3.1; Vector Types:Mammalian Expression; Bacterial Resistance:Ampicillin

Comments: According to the large datasets deposited in various databses like: dbSNP, 1000 Genomes, the ExAC and the gnomAD browser, the variant c.887C>T, p.Pro296Leu is found roughly in 50% of general world population. Moreover, according to the large-scale sequencing studies involving more than 135 000 healthy individuals deposited in The Genome Aggregation Database (gnomAD), it is more prevalent than the previously assigned reference allele in the European population, with a minor allele frequency of 0.69: http://gnomad.broadinstitute.org/variant/1-231488524-C-T Taken this into account, this variant (P296L) is s actually the accurate reference (wild-type) allele, and thus this variant can not be the cause of any Mendelian disease. This is the reason why all our vectors bear this variant.

Expand All Collapse