rs181335666
This variant is located in the TBL1Y gene.
▶Research that mentions this SNP (1)
▶Forensic use of Y-chromosome DNA: a general overviewReviewManfred Kayser et al.(2017)· Human Genetics
A comprehensive review of forensic applications of Y-chromosome DNA analysis, including Y-STR haplotyping for paternal lineage identification, paternity and kinship testing, familial searching, and bio-geographic ancestry inference. The paper illustrates these applications through the 14-year investigation of the 1999 Marianne Vaatstra murder case in the Netherlands, which was solved using Y-STR-based DNA dragnet and familial searching. The review discusses various Y-STR markers (9-27 loci), rapidly mutating Y-STRs for better discrimination, Y-SNP haplogroups for ancestry inference, and future directions in forensic Y-chromosome analysis.
About TBL1Y
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
View all TBL1Y variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…