OMIA 002177-9615 : Amelogenesis imperfecta, ACP4-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ACPT||acid phosphatase, testicular||Canis lupus familiaris||1||NC_006583.3 (106056137..106051901)||ACPT||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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Akita American Akita||Amelogenesis imperfecta, ACP4-related||ACPT||insertion, small (<=20)||CanFam3.1||1||c.1189dupG||p.Ala397Glyfs||2019||30877375|
|2019||Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. :|
|Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.|
- Created by Frank Nicholas on 20 Mar 2019
- Changed by Frank Nicholas on 21 Mar 2019