Sequence analysis revealed fifteen polymorphic sites in amplified exonic and associated intronic
region of Pit1 gene of Pakistani Sahiwal cattle breed.
31C>A); the last one is polymorphic in ovine species than those found in the other intronic
region (Garcia-Fernandez et al.
A thorough review of the variant spectrum associated with each gene is essential to identify common pathogenic variants or hot spots and pathogenic variants located outside of typically covered exonic regions, such as deep intronic
or untranslated regions.
A total of nine SNPs were associated with at least one trait; five SNPs were intronic
, and four SNPs had known functional changes.
Because all novel alleles were found to exclusively harbor intronic
polymorphisms, we sought to characterize HLA variability by genomic feature (UTR, intron, and exon) to determine whether or not intronic
variations are more or less common than polymorphisms within other regions of the HLA genes.
The occurrence of intra-generic variation only on intronic
region (1, 2, 8) and conservation of coding region (exon 2, 8, 9) in Nili-Ravi and Kundi buffalo is according to previous findings about PRKAA2 gene.
Interestingly, a relationship between methylation and reported childhood adversity was observed in the offspring, but at a different site within the same intronic
region of the gene, said Yehuda.
not including deletions, frameshifts, stop codons or intronic
splice region variants, at random in a European (non-Finnish) sample was estimated from ExAC Browser data by 1--((product (1--frequency of each variant)) [conjunction] 38) for 38 haploid genotypes (i.
Expansion of intronic
GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
Seven pairs of primers for amplification of both exonic and intronic
regions of [beta]2M gene in the DNA samples of Murrah buffaloes were designed on the basis of sequences of cattle (Bos taurus) in public database at NCBI (AC_000167.
Equally, disruption of GPC3 could have been caused by a mechanism not examined in this study, such as splicing variations or intronic
H7 haplotype of HMGCR, including three intronic
SNPs: rs17244841, rs3846662, and rs17238540, is thought to be involved in production of HMGCR isoform through alternative splicing of transcript.
SNVs, while not affecting the amino acid sequence, may also result in changes in expression and/or splicing of a particular transcript.
The product has been upgraded to analyse the entire coding region of 314 genes and select promoter and intronic
regions in 29 genes to reflect the most recent clinically relevant developments in cancer biology.
We found 8 variants, reported as polymorphisms (Table II), and 2 intronic
variations (Table III).