chr17:41256249 C>A
Основные
- Gene
- BRCA1
- Transcript
- NM_007294.3
- cDNA
- c.331G>T
- Protein
- p.E111X
- Function
- stop gain
- Localization
- exon
- hg19
- chr17:41256249 C>A
- dbSNP
Синонимы
- Transcript
- cDNA
- Protein
- NM_007297.3
- c.190G>T
- p.E64X
- NM_007298.3
- c.331G>T
- p.E111X
- NM_007299.3
- c.331G>T
- p.E111X
- NM_007300.3
- c.331G>T
- p.E111X
- NR_027676.1
- n.470G>T
Frequency in gnomAD
- Genome
- Exome
- MAX
- –
- –
- AFR
- –
- –
- AMR
- –
- –
- ASJ
- –
- –
- EAS
- –
- –
- FIN
- –
- –
- NFE
- –
- –
- SAS
- –
- –