SELP
This page contains an overview of the genetic variation in the SELP 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:
SELP gene and transcript details
Gene Name
selectin P (granule membrane protein 140kDa, antigen CD62)
Gene Links
Ensembl: ENSG00000174175 -
Locus Reference Genomic:
Genomic Location
Chromosome 1 : 169,559,386 - 169,599,312 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (2490 bases) | Protein (830 aa) |
|---|---|---|
 |
ENST00000263686 | ENSP00000263686 |
 |
||
 |
NM_003005.3 | |
 |
Summary of SELP in Cardiomyopathies
SELP variants in ExAC
Details of the protein-altering SELP 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 | 405 | 0.00575 |
| Truncating | 45 | 0.00051 |
| Missense | 319 | 0.00457 |
| Inframe | 2 | 0.00007 |
| Splice Site | 39 | 0.00060 |