In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle

BMC Genomics

Table 1 Variants compatible with recessive inheritance

Chromo-some	Chromosomal position (bp)	NCBI assay ID	Reference allele	Alternative allele	Affected gene	Effect
17	65,696,110	rs440561578	C	T	TRPV4	intronic
17	65,850,261	rs467377722	C	T	---	---
17	65,905,778	rs463975690	A	G	UBE3B	intronic
17	65,921,497	rs475678587	G	A	UBE3B	splicing site

Four SNPs compatible with recessive inheritance were located in the 713 kb segment of extended homozygosity. The functional annotation of the identified polymorphisms was obtained based on the UMD3.1 gene prediction [21].

ISSN: 1471-2164