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variantP22607.json
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variantP22607.json
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{
"accession": "P22607",
"entryName": "FGFR3_HUMAN",
"sequence": "MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHHSAWLVVLPAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQYSPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT",
"sequenceChecksum": "BC5EA75EA46F447E",
"taxid" : 9606,
"features":
[
{
"type": "VARIANT",
"alternativeSequence": "T",
"begin": "99",
"end": "99",
"xrefs":
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{
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"url": "http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759815430"
}
],
"wildType": "A",
"frequency": 0.0,
"polyphenPrediction": "unknown",
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"cytogeneticBand": "4p16.3",
"genomicLocation": "4:g.1799439G>A",
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},
{
"type": "VARIANT",
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}
],
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},
{
"type": "VARIANT",
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{
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},
{
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},
{
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}
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},
{
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{
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{
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},
{
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{
"name": "cosmic",
"id": "COSM1428743",
"url": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1428743"
}
],
"evidences":
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{
"code": "ECO:0000313",
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}
}
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{
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{
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},
{
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{
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}
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},
{
"type": "VARIANT",
"description": "LSS: primary tissue(s): lung; in a lung adenocarcinoma sample; somatic mutation Ftid: VAR_042207",
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"xrefs":
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{
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"id": "COSM21226",
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}
],
"evidences":
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{
"code": "ECO:0000313",
"source":
{
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"url": "http://cancer.sanger.ac.uk/cosmic/study/overview?study_id=36"
}
},
{
"code": "ECO:0000269",
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"name": "PubMed",
"id": "17344846",
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}
},
{
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{
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"url": "http://cancer.sanger.ac.uk/cosmic/study/overview?study_id=34"
}
},
{
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},
{
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