SNRPB
This page contains an overview of the genetic variation in the SNRPB gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
SNRPB gene and transcript details
Gene Name
small nuclear ribonucleoprotein polypeptides B and B1
Gene Links
Ensembl: ENSG00000125835 -
Locus Reference Genomic:
Genomic Location
Chromosome 20 : 2,442,402 - 2,451,336 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (720 bases) | Protein (240 aa) |
|---|---|---|
 |
ENST00000438552 | ENSP00000412566 |
 |
||
 |
NM_198216.1 | |
 |
P14678 |
Summary of SNRPB in Cardiomyopathies
SNRPB variants in ExAC
Details of the protein-altering SNRPB variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 76 | 0.00110 |
| Truncating | 2 | 0.00002 |
| Missense | 56 | 0.00074 |
| Inframe | 0 | 0.00000 |
| Splice Site | 18 | 0.00034 |