OMIA 002132-9615 : Abortion (embryonic lethality), BTBD17-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|BTBD17||BTB (POZ) domain containing 17||Canis lupus familiaris||9||NC_051813.1 (6719394..6725404)||BTBD17||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|851||German Shorthaired Pointer||Abortion (embryonic lethality), BTBD17-related||BTBD17||insertion, small (<=20)||Naturally occurring variant||CanFam3.1||9||g.6048201_6048202insG||c.85+206_85+207insG||ROS_Cfam_1.0:g.6720627_6720628insG ENSCAFT00845033049.1:c.85+206_85+207insG||rs852549625||2017||29053721|
|2017||Meyers-Wallen, V.N., Boyko, A.R., Danko, C.G., Grenier, J.K., Mezey, J.G., Hayward, J.J., Shannon, L.M., Gao, C., Shafquat, A., Rice, E.J., Pujar, S., Eggers, S., Ohnesorg, T., Sinclair, A.H. :|
|XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PLoS One 12:e0186331, 2017. Pubmed reference: 29053721. DOI: 10.1371/journal.pone.0186331.|
- Created by Frank Nicholas on 24 Oct 2017