exonic_splice_region_variant [SO_0002084]
A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary.
Note
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VFB Term Json
{
"term": {
"core": {
"iri": "http://purl.obolibrary.org/obo/SO_0002084",
"symbol": "",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0002084",
"label": "exonic_splice_region_variant"
},
"description": [
"A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary."
],
"comment": []
},
"query": "Get JSON for Class",
"version": "44725ae",
"parents": [
{
"symbol": "",
"iri": "http://purl.obolibrary.org/obo/SO_0001630",
"types": [
"Entity",
"Class"
],
"short_form": "SO_0001630",
"label": "splice_region_variant"
}
],
"relationships": [],
"xrefs": [],
"anatomy_channel_image": [],
"pub_syn": [
{
"synonym": {
"scope": "has_exact_synonym",
"label": "ANNOVAR:exonic;splicing",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_exact_synonym",
"label": "exonic splice region variant",
"type": ""
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
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],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
},
{
"synonym": {
"scope": "has_related_synonym",
"label": "Seattleseq:coding-near-splice",
"type": "http://purl.obolibrary.org/obo/so#VAR"
},
"pub": {
"core": {
"symbol": "",
"iri": "http://flybase.org/reports/Unattributed",
"types": [
"Entity",
"Individual",
"pub"
],
"short_form": "Unattributed",
"label": ""
},
"FlyBase": "",
"PubMed": "",
"DOI": ""
}
}
],
"def_pubs": []
}
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