Summary
SequenceProtein InformationProtein summaryDomains & featuresVariantsPDB 3D protein modelAlphaFold predicted modelGenetic VariationVariant tableVariant imageHaplotypesPopulation comparisonComparison imageExternal ReferencesSupporting evidenceID History.
protease, serine, 48 [Source:HGNC Symbol;Acc:24635]
ESSPL
Chromosome 4: 152,198,323-152,212,605 forward strand.
This transcript has 3 exons, is annotated with 8 domains and features, is associated with 3835 variant alleles and maps to 117 oligo probes.
This transcript is a product of gene ENSG00000189099.7 Show transcript tableHide transcript table
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Exons: 3, Coding exons: 3, Transcript length: 560 bps, Translation length: 185 residues
This transcript corresponds to the following Uniprot identifiers: Q7RTY5
ENST00000441586.2
Protein coding
Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.
This transcript has a variant, rs2407221, that causes a stop codon to be lost in at least 10% of HapMap or 1000 Genome population(s) ESP6500:European_American, CSHL-HAPMAP:HAPMAP-MEX, CSHL-HAPMAP:HapMap-HCB, CSHL-HAPMAP:HAPMAP-CHD, CSHL-HAPMAP:HAPMAP-MKK, CSHL-HAPMAP:HAPMAP-TSI, CSHL-HAPMAP:HapMap-JPT, CSHL-HAPMAP:HAPMAP-GIH, CSHL-HAPMAP:HAPMAP-ASW, CSHL-HAPMAP:HAPMAP-CHB, CSHL-HAPMAP:HAPMAP-LWK, CSHL-HAPMAP:HapMap-CEU, ESP6500:African_American, CSHL-HAPMAP:HapMap-YRI.
This transcript corresponds to the following database identifiers:
| Transcript having exact match between ENSEMBL and HAVANA: |
OTTHUMT00000365686 (version 1) |
|---|
This transcript is a member of the Gencode basic gene set.
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