SNP Chr pos (hg38
) Ref/Alt dbSNP Amino func annot acid change Rs226794 21:26930036 G/A missense L692P Rs7281968 21:26930239 T/G intronic Rs2830584 21:26930587 G/A intronic Rs151056 21:26931204 G/A intronic Rs386817552 21:26932519 N/A N/A Rs229045 21:26932555 G/A intronic Rs2830585 21:26932893 C/T missense R614H Rs2830586 21:26931158 T/G intronic Rs752315154 21:26933328 T/A intronic SNP Amino Prediction Score Median info acid (homologs) (homologs) (homologs) Rs226794 Leu Damaging 0.02 3.22 Pro Tolerated 1 3.22 Rs7281968 Rs2830584 Rs151056 Rs386817552 Rs229045 Rs2830585 Arg Tolerated 1 3.21 His Damaging 0 3.21 Rs2830586 Rs752315154 Chr pos: chromosome position.
The slncky Evolution Browser contains alignments and evolutionary metrics of lncRNAs conserved in the mouse (mm10, GRCm38) and human (hg38
, GRCh38) genomes and was used to identify the potential human ortholog of slincR (Chen et al.
Study was completed using genome assembly GRCh 38/ hg38
data was accessed using NCBI map viewer for the identification of exact loci of overlapping genes.
tRNA and rRNA genomic coordinates on hg38
genome were retrieved from UCSC Repeat-Masker track  using Table Browser tool .
The raw reads were prepared (quality control, adapter trimming) for mapping to the human genome assembly hg38
with segemehl , allowing multiple read mapping.
R702R (rs16865307) is an SNP defined by the substitution of thymine for guanine at the 197402104 nucleotide position of chromosome 2 on genome build Hg38
. This SNP is felt to be present in 3.36% of the population per the 1000 Genomes Project.
Bisulfite sequencing reads were aligned to the most recent reference human genome (hg38
) using BSMAP (version 2.9; GNU GPL) (Xi and Li 2009), which automatically trims adapters and low-quality sequence reads.
Sequence coordinates were retrieved from the University of California Santa Cruz human-genome browser assembly hg38
The paired-end reads were then aligned on human reference genome hg38
The trimmed reads were then realigned to the current build of the human genome (hg38
annotation) using the Spliced Transcripts Alignment to a Reference (STAR) aligner.
All coordinates were transformed from hg18 to hg38
, and the genes were reannotated.
2013 Assembly - GRCh38/ hg38
) , miR-193a coding gene, defined as MIR193a, is located on human chromosome 17q11.2 (chr17:31,558,803-31,560,358) (Figure 1(a)).