MutSpliceDB: a database of Splice Sites Variants
Gene | SBF2 |
Mutation | NM_030962.4:c.513G>A |
Allele registry ID | CA473081533 |
Effect | Intron inclusion between exons 5 & 6 |
RNA-seq evidence:
Sample | RNA-seq BAM file (DNA BAM) | Source | Splicing effect image snapshot | Genome version | Mini BAM file | Open in IGV |
---|---|---|---|---|---|---|
TCGA-5N-A9KI-01A | bc963e4c-9821-44d8-a1e8-80c69ffad48d.rna_seq.genomic.gdc_realn.bam | GDC/TCGA | TCGA-5N-A9KI-01A_SBF2_CA473081533.jpeg | hg38 |