{ "uniprot_canonical_ac": "A0AV02-1", "ptm_annotation": [], "sequence": { "header": "sp|A0AV02-1|S12A8_HUMAN Isoform 1 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" }, "uniprot_id": "S12A8_HUMAN", "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11863360", "type": "PubMed", "id": "11863360" } ], "title": "Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "authors": "See C.G., Riley J., Robinson P., Inerot A., Plumpton M., Enlund F., Martinsson T., Samuelsson L., Swanbeck G., Wahlstrom J., Cantone K., Chadha S., Christodolou C., Enerback C., Hewett D., Matthews P., Montgomery D., Polding J., Purvis I., Roses A., Smart D.", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16297188", "type": "PubMed", "id": "16297188" } ], "title": "Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.", "journal": "J. Invest. Dermatol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "id": "A0AV02", "database": "UniProtKB" } ], "authors": "Baumann C., Kuester W., Burkhardt H., Reis A., Traupe H., Lascorz J., Hueffmeier U., Boehm B., Kelsch R., Schuermeier-Horst F., Staender M.", "date": "2005" } ], "uniprot_ac": "A0AV02", "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "synonym", "resource": "UniProtKB", "name": "CCC9" }, { "url": "https://www.uniprot.org/uniprot/A0AV02", "type": "recommended", "resource": "UniProtKB", "name": "SLC12A8" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-1", "isoform_ac": "A0AV02-1", "locus": { "end_pos": 125083893, "strand": "+", "start_pos": 125211349, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000393469", "id": "ENST00000393469", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000377112", "id": "ENSP00000377112", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AV02-1|S12A8_HUMAN Isoform 1 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 714, "sequence": "MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-2", "isoform_ac": "A0AV02-2", "locus": {}, "sequence": { "header": "sp|A0AV02-2|S12A8_HUMAN Isoform 2 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 743, "sequence": "MLPLERTITYRDMSSFIQVKNHFNVVNVTCVSYRSTCFRDMRRFILDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-3", "isoform_ac": "A0AV02-3", "locus": { "end_pos": 125083893, "strand": "+", "start_pos": 125120825, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430155", "id": "ENST00000430155", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000415713", "id": "ENSP00000415713", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AV02-3|S12A8_HUMAN Isoform 3 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 515, "sequence": "MRRAAAGGLAVGQLPGEGPAGEEGAALGKAMRGGGCSPHSPSGCLSGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-4", "isoform_ac": "A0AV02-4", "locus": {}, "sequence": { "header": "sp|A0AV02-4|S12A8_HUMAN Isoform 4 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 375, "sequence": "MAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFVFVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEGSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#A0AV02-5", "isoform_ac": "A0AV02-5", "locus": {}, "sequence": { "header": "sp|A0AV02-5|S12A8_HUMAN Isoform 5 of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=4 CANONICAL=A0AV02-1", "length": 308, "sequence": "MCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRVLEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPAASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLLGAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPSLAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#C9IZN2-1", "isoform_ac": "C9IZN2-1", "locus": { "end_pos": 125177933, "strand": "+", "start_pos": 125190476, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000462437", "id": "ENST00000462437", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418636", "id": "ENSP00000418636", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9IZN2-1|C9IZN2_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=3 SV=1 CANONICAL=A0AV02-1", "length": 112, "sequence": "MWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAES" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5B1-1", "isoform_ac": "H7C5B1-1", "locus": { "end_pos": 125177828, "strand": "+", "start_pos": 125190525, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000473262", "id": "ENST00000473262", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419424", "id": "ENSP00000419424", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C5B1-1|S12A8_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=1 SV=1 CANONICAL=A0AV02-1", "length": 160, "sequence": "XQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGMFLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQVPCISPALLNPSRICWASGISGLCEEFQLRCFWPCWALTSQVSNG" } }, { "url": "https://www.uniprot.org/uniprot/A0AV02#H7C5L2-1", "isoform_ac": "H7C5L2-1", "locus": { "end_pos": 125110273, "strand": "+", "start_pos": 125190450, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000479826", "id": "ENST00000479826", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420197", "id": "ENSP00000420197", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C5L2-1|H7C5L2_HUMAN Computationally mapped isoform of Solute carrier family 12 member 8 OS=Homo sapiens OX=9606 GN=SLC12A8 PE=3 SV=2 CANONICAL=A0AV02-1", "length": 207, "sequence": "LGWCVHILHDQHLWGCALPEDWLAGGKHRSAPGHVPGVLRHPGGPRHGAVWHWRRGAQQHRQRWRLLHDLLGPGWADGRHHRAALCVWTEHGFIGYSPELLQNNTLPDYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFLIAEKVSLMGFLFLLGLYISSLASCM" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84561", "resource": "KEGG Pathway", "id": "hsa:84561", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#function", "annotation": "Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AV02#function", "id": "A0AV02", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8CJI3-1", "protein_name": "Solute carrier family 12 member 8", "sequence": { "length": 707, "sequence": "MAQRSPQELFHEAAQQGVLARSQPWWKIQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGLLLVSFVILVALITVLSGIGVAEHGWMGSGGVYSMISSVLGGQMGGTVGLLYVFGQCVAGAMYLTGFAESISDLLGLGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLSLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQSNILPEYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPADQHTPRLPSSCWVSRGFSNIIFAFLLGAVCTREALRSDFLIAEKVSLVGFLFLLGLYISSLASCMGGLYGAPRILQCIAQDKVIPALAFLGNGKGPNKTPVAAICLTSLVTMAFVLVGQVNVLAPVVTINFMLTYIAVDYSYFALSMAHCGLAQSPEPMPRQGPDALHCSEHLLQDKAPSYGSDTPAGSLSEGTLLEFTKDMDQLLQPIGGLESQPRSREVNQVLKSQKHKCKKDAKQTLQDSFLLDAESPLSFSMGASERLSVASCGEQESYQNQQTSRSESHDHLVPDLCTQPRANGEDFFLKCRLQEQQVQRRPSAFYVCMCNPWVSLLGALASLLIMFVIQWLYTLASMGVAALVYLYIGQASPGLYLGSASNFSFFQWMKSFLVPSCRSLRSTREQIILAPSPAKVDMAMTQAYPGQWQTSATRERYHRSSFLSREQLMPPY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11628", "id": "11628", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Slc12a8", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8VI23-1", "protein_name": "Solute carrier family 12 member 8", "sequence": { "length": 705, "sequence": "MAQRSPQELFHEAAQQGILAQPQPWWKIQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGLLLVSFVVLVALITVLSGIGVAEHGGISSGGVYSMISSVLGGQMGGTVGLLYVFGQCVAGAMYITGFAESISDLLGLGDIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLLLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQSNILPEYSPGESFFTVFGVFFPAATGVMAGFNMGGDLRDPADSVPLGSLAAVGVSWFLYIIFAFLLGAVCTREALRSDFLIAEKVSLVGFLFLLGLYISSLASCMGGLYGAPRILQCIAQDKVIPALAFLANGKGPNKTPVAAICLTSLVTMAFVLVGQVNVLAPVVTINFMLTYIMVDYSYFALSMAHCGLAPSPEPVPRQGPDTLHCSEHLLQDRAPSYGSDVPARSLSEGTLLEFTKDMDQFLQPIEELESRQLGSREGNNPKNQKRKGKKGAKQTLQDSFLLDPGSPLSFPTRTSERLSVAFCGEQESYQKQQTSRSESHDHLVPDLRNQPRVNREDFFLKCRLQEQEIQRRPSVFYACMCNPWVSLLGALASLLIMFVIQWLYTLASMGVAALVYFYIGQASPGLYLGSASNFSFFQWMKSFLVPSCRSLRSAQEQIILAPSPAKVDMAMTQLTQDNADFATRDRYHHSSFLSREQLMPPY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/11628", "id": "11628", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Slc12a8", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLA->NLT).", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "125177845C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759173833", "id": "rs759173833", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs759173833", "id": "rs759173833", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs759173833#frequency_tab", "id": "rs759173833", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs759173833", "id": "rs759173833", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 174, "keywords": [ "ebi", "germline" ], "end_pos": 174, "minor_allelic_frequency": "" }, { "sequence_org": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).", "alt_nt": "null", "chr_id": "3", "ref_nt": "C", "chr_pos": "125135743T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755228389", "id": "rs755228389", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755228389", "id": "rs755228389", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs755228389#frequency_tab", "id": "rs755228389", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs755228389", "id": "rs755228389", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "S", "start_pos": 221, "keywords": [ "ebi", "germline" ], "end_pos": 221, "minor_allelic_frequency": "" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNM).", "alt_nt": "null", "chr_id": "3", "ref_nt": "A", "chr_pos": "125135737G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750288728", "id": "rs750288728", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs750288728", "id": "rs750288728", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs750288728", "id": "rs750288728", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "M", "start_pos": 223, "keywords": [ "ebi", "germline" ], "end_pos": 223, "minor_allelic_frequency": "" }, { "sequence_org": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "125135729C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1031762335", "id": "rs1031762335", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1031762335#frequency_tab", "id": "rs1031762335", "database": "TOPMed" } ], 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"database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221955", "id": "ENSG00000221955", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": 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"https://www.ncbi.nlm.nih.gov/protein/A0AV02", "type": "synonym", "resource": "RefSeq", "name": "solute carrier family 12 member 8" } ] }