rs2072422

This variant is located in the UTY gene.

Research that mentions this SNP (1)

Single nucleotide polymorphism typing with massively parallel sequencing for human identification
MethodsN=4Seung Bum Seo et al.(2013)· International Journal of Legal Medicine

This study evaluated the Ion AmpliSeq HID SNP panel (103 autosomal SNPs and 33 Y-SNPs) using Ion Torrent PGM sequencing for forensic human identification. With 10 ng template DNA, all SNPs were detected with high concordance to Illumina GAIIx results, though rs1029047 showed genotyping errors due to adjacent homopolymic stretches. The paper demonstrates that massively parallel sequencing can successfully genotype large SNP batteries with high accuracy, even with degraded DNA down to 1 ng.

Traits studied:forensic identificationhuman identification

About UTY

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

View all UTY variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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