2024-03-29 19:51:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006873 5534 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens stonin 1 (STON1), transcript variant 2, mRNA. ACCESSION NM_006873 VERSION NM_006873.3 GI:310750315 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 5534) AUTHORS Maritzen,T., Podufall,J. and Haucke,V. TITLE Stonins--specialized adaptors for synaptic vesicle recycling and beyond? JOURNAL Traffic 11 (1), 8-15 (2010) PUBMED 19732400 REMARK Review article REFERENCE 2 (bases 1 to 5534) AUTHORS Estes,P.S., Jackson,T.C., Stimson,D.T., Sanyal,S., Kelly,L.E. and Ramaswami,M. TITLE Functional dissection of a eukaryotic dicistronic gene: transgenic stonedB, but not stonedA, restores normal synaptic properties to Drosophila stoned mutants JOURNAL Genetics 165 (1), 185-196 (2003) PUBMED 14504226 REMARK GeneRIF: Functional analysis of an homologous Drosophila gene. REFERENCE 3 (bases 1 to 5534) AUTHORS Walther,K., Krauss,M., Diril,M.K., Lemke,S., Ricotta,D., Honing,S., Kaiser,S. and Haucke,V. TITLE Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating JOURNAL EMBO Rep. 2 (7), 634-640 (2001) PUBMED 11454741 REMARK Erratum:[EMBO Rep 2002 Feb;3(2):197] REFERENCE 4 (bases 1 to 5534) AUTHORS Martina,J.A., Bonangelino,C.J., Aguilar,R.C. and Bonifacino,J.S. TITLE Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery JOURNAL J. Cell Biol. 153 (5), 1111-1120 (2001) PUBMED 11381094 REFERENCE 5 (bases 1 to 5534) AUTHORS Han,S.Y., Zhou,L., Upadhyaya,A., Lee,S.H., Parker,K.L. and DeJong,J. TITLE TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse JOURNAL Biol. Reprod. 64 (2), 507-517 (2001) PUBMED 11159353 REFERENCE 6 (bases 1 to 5534) AUTHORS Upadhyaya,A.B., Lee,S.H. and DeJong,J. TITLE Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis JOURNAL J. Biol. Chem. 274 (25), 18040-18048 (1999) PUBMED 10364255 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK314464.1, AF255310.1, AC073082.6 and BM974074.1. On Oct 29, 2010 this sequence version replaced gi:26787992. Summary: Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]. Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK314464.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025086, ERS025094 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-305 AK314464.1 1-305 306-2242 AF255310.1 221-2157 2243-2303 AK314464.1 2243-2303 2304-5512 AC073082.6 105987-109195 c 5513-5534 BM974074.1 1-22 c FEATURES Location/Qualifiers source 1..5534 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p16.3" gene 1..5534 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /note="stonin 1" /db_xref="GeneID:11037" /db_xref="HGNC:17003" /db_xref="HPRD:16100" /db_xref="MIM:605357" exon 1..48 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /inference="alignment:Splign:1.39.8" exon 49..2025 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /inference="alignment:Splign:1.39.8" misc_feature 69..71 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /note="upstream in-frame stop codon" variation 81 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:145689585" variation 95 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:149572071" CDS 96..2303 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /note="stoned B homolog 1; stoned-b1; stoned B-like factor" /codon_start=1 /product="stonin-1" /protein_id="NP_006864.2" /db_xref="GI:26787993" /db_xref="CCDS:CCDS1841.1" /db_xref="GeneID:11037" /db_xref="HGNC:17003" /db_xref="HPRD:16100" /db_xref="MIM:605357" /translation="
MCSTNPGKWVTFDDDPAVQSSQKSKNFPLENQGVCRPNGLKLNLPGLREFPSGSSSTSSTPLSSPIVDFYFSPGPPSNSPLSTPTKDFPGFPGIPKAGTHVLYPIPESSSDSPLAISGGESSLLPTRPTCLSHALLPSDHSCTHPTPKVGLPDEVNPQQAESLGFQSDDLPQFQYFREDCAFSSPFWKDEGSDSHFTLDPPGSKKMFSSRNKEMPIDQKSLNKCSLNYICEKLEHLQSAENQDSLRSLSMHCLCAEENASSFVPHTLFRSQPKSGWSFMLRIPEKKNMMSSRQWGPIFLKVLPGGILQMYYEQGLEKPFKEIQLDPYCRLSEPKVENFSVAGKIHTVKIEHVSYTEKRKYHSKTEVVHEPDIEQMLKLGSTSYHDFLDFLTTVEEELMKLPAVSKPKKNYEEQEISLEIVDNFWGKVTKEGKFVESAVITQIYCLCFVNGNLECFLTLNDLELPKRDESYYEKDSEKKGIDILDYHFHKCVNVQEFEQSRIIKFVPLDACRFELMRFKTLYNGDNLPFSLKSVVVVQGAYVELQAFVNMASLAQRSSYAGSLRSCDNIRIHFPVPSQWIKALWTMNLQRQKSLKAKMNRRACLGSLQELESEPVIQVTVGSAKYESAYQAVVWKIDRLPDKNSSLDHPHCLSYKLELGSDQEIPSDWYPFATVQFSVPDTCASRTEVRSLGVESDVQPQKHVQQRACYNIQVEIEKKWIKIDGEDPDKIGDCITQ
" misc_feature 1296..2231 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /note="Adaptor complexes medium subunit family; Region: Adap_comp_sub; pfam00928" /db_xref="CDD:189773" misc_feature 1302..2228 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /note="Mu homology domain (MHD) of adaptor-like protein (AP-like), stonin-1 (also called Stoned B-like factor); Region: AP_stonin-1_MHD; cd09262" /db_xref="CDD:211373" variation 103 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:375683286" variation 119 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:17039250" variation 128 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:377163276" variation 139 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:141632429" variation 161 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:146225585" variation 177 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:144911860" variation 179 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:200594593" variation 192 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:62135239" variation 193 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:147930121" variation 231 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:371713643" variation 232 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:370606309" variation 239 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:147058798" variation 247 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:373664523" variation 257 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:368657266" variation 284 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:372424278" variation 288 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:151071170" variation 289 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:77258218" variation 291 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:150184548" variation 299 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:3828340" variation 313 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:141781850" variation 329 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:375668596" variation 340 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:367947866" variation 345 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:187814380" variation 403 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:371625851" variation 428 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:376885663" variation 430 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:148421360" variation 438 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:147769896" variation 447 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:368698079" variation 448 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:72824125" variation 455 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:201719363" variation 475 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:940389" variation 544 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:191162747" variation 569 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:376805660" variation 601 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:115483107" variation 606 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:202246718" variation 625 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:201775589" variation 632 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:145086840" variation 684 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:145361751" variation 688 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:143291656" variation 719 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:140553345" variation 728 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:200865903" variation 737 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:140426223" variation 760 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:201248705" variation 847 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:368805688" variation 868 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:200183987" variation 901 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:71407513" variation 903 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:144948396" variation 906 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:200359440" variation 916 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:149471025" variation 917 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:3749142" variation 962 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:368271199" variation 1022 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:372431723" variation 1036 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:201931157" variation 1047 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:376725798" variation 1049 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:149077948" variation 1059 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:369713988" variation 1064 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:142980198" variation 1097 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:143139624" variation 1141 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:368140957" variation 1155 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:145779115" variation 1164 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:371602666" variation 1179 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:3749143" variation 1205 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:3749144" variation 1206 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:148255611" variation 1221 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:3749145" variation 1250 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:150109250" variation 1278 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:183559440" variation 1297 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:142761268" variation 1313 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:375059931" variation 1322 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:201415395" variation 1327 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:377554331" variation 1347 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:137911597" variation 1353 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:144412674" variation 1354 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:142418858" variation 1358 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:187712698" variation 1361 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:140401118" variation 1369 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:370031309" variation 1382 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:377643770" variation 1410 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:146532933" variation 1420 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:145603974" variation 1467 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:149954327" variation 1481 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:138179455" variation 1487 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:200191646" variation 1491 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:200675765" variation 1528 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:143114677" variation 1530 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:142769725" variation 1562 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:147826910" variation 1578 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:137899415" variation 1587 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:199643800" variation 1624 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:201713773" variation 1626 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:375954695" variation 1627 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:150265234" variation 1639 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:138928845" variation 1642 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:150634127" variation 1692 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:138823425" variation 1695 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:142846683" variation 1697 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:148712135" variation 1708 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:139601940" variation 1715 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:144521313" variation 1727 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:3828341" variation 1739 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:141376897" variation 1745 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:149386954" variation 1754 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:370458736" variation 1759 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:145919647" variation 1768 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:138404319" variation 1773 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:146130623" variation 1801 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:116123432" variation 1821 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:201190137" variation 1823 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:375300132" variation 1836 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:190047923" variation 1840 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:148520667" variation 1863 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:202070331" variation 1864 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:111280840" variation 1890 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:147440328" variation 1891 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:200156328" variation 1904 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:199917756" variation 1916 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:3792234" variation 1929 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:181621623" variation 1932 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:149692974" variation 1952 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:17397707" variation 1989 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:368758176" variation 1999 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:144773171" variation 2002 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:372855343" variation 2005 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:148571409" exon 2026..2228 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /inference="alignment:Splign:1.39.8" variation 2028 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:372629912" variation 2034 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:377466906" variation 2073 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:371015402" variation 2106 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:373971715" variation 2112 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:199992837" variation 2145 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:150862392" variation 2152 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:376653994" variation 2183 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:368840612" exon 2229..5516 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /inference="alignment:Splign:1.39.8" variation 2243 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:2140551" variation 2249 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:147219820" variation 2261 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:186466615" variation 2286 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:116147474" variation 2301 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:148676074" variation 2331 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:368101734" variation 2334 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:74876192" variation 2354 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:189715750" variation 2402 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:7574549" variation 2506 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:370396546" variation 2616 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:144634742" variation 2815 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:180951958" variation 2861 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:76405918" variation 2945 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:74349170" variation 3091 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:185429223" variation 3244 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:145728058" variation 3334 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:200192559" variation 3464 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:112236856" variation 3489 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:79653925" variation 3548 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:370564429" variation 3735 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:73927995" variation 3777 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:374998547" variation 3839 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:191112166" variation 3882 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:183427021" variation 3937 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:142897148" variation 4062 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:151088100" variation 4099 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:370903155" variation 4107 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:188364321" variation 4126 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="g" /replace="t" /db_xref="dbSNP:191884945" variation 4148 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:376265232" variation 4205 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:113848241" variation 4259 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:374581671" variation 4349 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:183086204" variation 4363 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:3749146" variation 4371 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:13384825" variation 4437 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:367653240" variation 4512..4514 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="atc" /replace="gtt" /db_xref="dbSNP:71416124" variation 4512 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:35265092" variation 4514 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:35304210" variation 4560 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:13018198" variation 4587 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:145136163" variation 4724 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:78579226" variation 4780 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:116549047" variation 4822 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:72824136" variation 4827 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:146884035" variation 4940 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:140761987" variation 4944 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:117181253" variation 4945 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:187808867" variation 4971 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:1045919" variation 4976 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="t" /db_xref="dbSNP:191160606" variation 4984 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:373364478" variation 5001 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:1045921" variation 5052 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:144595243" variation 5116 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="c" /db_xref="dbSNP:72824138" variation 5223 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="t" /db_xref="dbSNP:138397734" variation 5285 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:183546396" variation 5482 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="a" /replace="g" /db_xref="dbSNP:372439560" polyA_signal 5493..5498 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" variation 5512 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" /replace="c" /replace="g" /db_xref="dbSNP:13388405" polyA_site 5514 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" polyA_site 5516 /gene="STON1" /gene_synonym="SALF; SBLF; STN1; STNB1" ORIGIN
ctggtgtggctggctgcggccagaatcggagccccaaccgcgctgccgagtcaacctatttgatttcttgacaagaccacaatctgatcccaaagatgtgctccacaaatccaggcaaatgggtcacctttgatgatgatcctgctgttcaatcttctcaaaagtcaaagaattttcctctggagaatcaaggtgtctgtagaccaaatggactgaagctgaaccttcctggcctcagggaatttcccagtggatcttcctccaccagcagcactcctctctcctcccccattgtagatttttatttcagtccaggacctccaagtaactctcctctttctacacctaccaaagacttcccaggttttcctggcatccccaaagcagggactcatgtgctttatcctattccagaatcatcttcagacagcccactcgcaatatcaggaggagaatcttccttactgcctaccagaccaacatgtttatcccatgccttgttacccagtgaccactcatgtacacatccaactcccaaagtaggtcttccagatgaagttaatcctcaacaggctgaaagcctaggattccaaagtgatgatctcccccagtttcagtattttcgagaggactgtgctttttcaagtccattttggaaagatgaaggcagtgattcccatttcacccttgacccaccaggaagcaaaaagatgttctcatcaagaaacaaggagatgcctattgaccaaaaaagcctaaataagtgttcactcaactatatctgtgagaagcttgaacatctccagtcagctgagaaccaagactcacttagaagtttgtctatgcactgtctatgtgctgaagaaaatgcctcttcctttgtcccccacacactcttcaggagtcagccaaaatccggatggtctttcatgctgagaattcctgagaagaagaatatgatgtcttcccggcaatggggaccaatttttctgaaagttttgcctggaggaattttgcagatgtattatgaacagggattagaaaaaccatttaaagagatacagcttgatccatattgtaggctttctgaacccaaggttgagaacttcagtgtagcaggaaaaatccacactgtgaagattgaacatgtgtcttacacagaaaaaaggaaataccattctaagacagaagtagttcatgaacctgacatagagcagatgctgaagttggggtccacatcgtaccatgacttccttgactttctgactactgtggaggaggagctgatgaagttgccagctgtttcaaaaccaaaaaagaactacgaggagcaagaaatttccttggaaattgtggacaacttttggggtaaagtcacaaaagaaggaaaatttgttgaaagtgctgtgataactcaaatttattgcctctgctttgtgaatgggaacctggaatgctttttaaccttgaatgaccttgagttgccgaagcgagatgaatcctattatgagaaggactcagaaaaaaaggggattgatattcttgactaccattttcataagtgtgtgaatgtacaagaatttgagcaatcaagaatcattaagtttgtacctctggatgcctgccggtttgagctgatgcgtttcaagactttgtataatggggataatcttcccttttccttgaagtctgtagtggttgtccagggagcatacgtggaacttcaggcttttgtcaacatggcctcattggcgcagaggtcatcctatgctggttccttaaggtcctgtgacaatataaggatacactttcctgtcccatcgcagtggatcaaggccctttggaccatgaacctccagaggcagaagtctctgaaagctaaaatgaaccgccgagcatgtctggggagtttacaggaacttgaatctgaacctgtcattcaagtcactgtggggtcagcaaaatatgagagtgcctaccaggcagtggtatggaagatagatcggcttccagacaaaaattcaagtctagatcatccccattgtctgtcatacaaattagagcttggatcagaccaagaaattccctctgattggtatccatttgctactgttcagttttccgtgcctgacacctgtgcctcaaggacagaggtcaggtctctgggagtggagagtgatgtccagccacagaaacatgttcagcagcgagcttgctacaacatccaggttgaaatagaaaagaagtggattaaaatcgatggagaagacccagataaaattggtgactgcataactcagtaggagtagcaagagtttatgatgacagcccacttgtcaaatatgtaattcaccgaaaccacaccaagtcctgctactgtagagtggaaatgacttctgaatagcggttttaggacaggtctgatggctgtgtttagagaagtttagacctaaaaccgaacaatctgtattttttgcttttcatgtgtttttgtcctaggggttcgatctaaaatgtttctataattcgtgtgatgttttgcttcctattgaaactcaaaggcactgttactcgttgtgtgaccccgcagccagtatgatttttgattactcagtggctgactgttttgctctctggattactgaggtgccgtcttcatttcttcccatctcttcttgctgcttagtgtctgtactagagggtaagggaatcaaaggagacataaaccaaaatagttaattttccctctttcttgcctctgaaatgtggctaggtgtagaatgatgttgaaaccacaggctaaaatgtagatctggaagtatctgtgcttttgaattacttatttacctgtcctcttaccgttggtaaataataattggctatatttggtacctgtctctctcctactgtattgtcattttcaaaatgtgtttgttttctggcgcgtgctgcaaagaagctatttctgttgtcctacatattttagtataaatcactaagacatatttcctttcacttggcaggattcctttcaaaatggaatctgagtattagacactagttaacatatttgtgtatattaaatatgaatttttaaaatttataaatactattttccaaaagtacagactctaaggacatattttgataaagtattatttgtaatgaacacaagcctctcttgagtagaagtctaaatcacattatgattattttatactagttctgctatcatgctgttttatgctaattctgcttattttagagtatttttcattaaaaggtgagcaaagtgaaagatacttggtattttacccagatttctaagtggcaacatttttattcttcagagtcaggtaaatgactataatagtttggtttctaatgaaaagtcaatagcattagcagttataattctgtttataatttcctttcagcatttacagtgaaaagtgagaattttaaaatttatgaaatctatattccaggtattgtttttagtctgaaaaacaaactcccccatgtggtattaatataccttcaatttatgttgagtcttaaacataattaggagatatttttctctatttgctagatttgttttgagtcaaaactgatttagtgttcttccaaacaacatttatgtgttggcctacagagtttatttcatgtgttttttttaatatttaatattatattacattcattgaaatctgttcaaaaacagattaagacaaacatttatgatggtctgtatcaatcagcagattttattgcttttcattattttactgtaaaggcaaagaatgcaataggtgatggttggttgaaaggaattgttattgctgtttttattttttactttttttgagacagagtctcactctgttgcccagcctggagtgcagtgtgtcatcttggctcactgcaacctccgcctcctgggttcaagggattctcctgcctcagcctccaactagctgggattacaggcacaagccaccatgcctggctaaaattcttttgtatttttactacagacggagtttccccatgttggccgggctagtctcgaactcctgacctcaggtgatccaccagcctcggcctcccaaagttctgggattaaatgcgtgagccaccatgcccggccgctattgctctttttaacttcatttgatgccttgcttataatatcatatgcttgaggctcactgttgatgtagagtagggcaaatctgtgtgtgtatgtcattaaaaaaattctaccatctttctttatcatctggtgtgggcgcactctacagtgacttcagtctgctcagaacgaatgtggaggccggccgaaactgatgctgcccacagtcccagtgaagttaggtgggttaattactgccattcctttctaagtgtgttttatggcatcctgcccacaaagaactcacagtctgattaggatgaacttaatgactatttacacctcaaaatatattcagcaaagggttcacttagttgcccctcatgcttcacaggttgactagtatctgtgggtacctccctgcccaggttattcactcacaagccaccgggccttcaggacatctcaagattcagtcttgacaatataatagcaaaagctggactaaagcccaaatggattgtctgtggcaatgcagaagctgatagcattaacagcagggtgttacagcataattgttaattcgcacatctattaggatccttaaatattcattacttaatgttaaattaacattctgtgtagggaggggaggcttattcaattcttctgacctcagaactggcagaaggtcagatgtgactacagaactctaggtgaaaaatcaggtagggttcaaattaagtagaactgcccttgccggaatagtgatcttcaaaaaacccttgcttttaggggagggaagcggggaaggaaaggaatgagggaggaaatattcctttctagcattcattttgcttagatcactccattgtgagtttgaccattttggagtcaaatgagcagacttccaaggagttgaccagtttgtgactagtctggtcacctttccagttacaggatcatattaactgtgtaaatgaattcatgggtagatgatttgtgcagatctgaatttaagaacatttcctttttctgtgggaatcacaagagtttatccactaaaaaaagatatgtaaaaaagatactttccagcacataaataaaggctggaattttacaacctgatgtatatattagacagttctaggatgttagttcccttcattccagagctatgcttgtgatacagccccttttcttataaagtcagttagaaggacttccttaacaatgactattataatgtcttacttaaaatacagttttgtattctgtcaatgcaaatataagacaggttgagccttaatcatgtaacaaaatattttgtagattacatattgatttttcaaaaattaaaaatgtatttcaaactattaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:11037 -> Biological process: GO:0006886 [intracellular protein transport] evidence: IEA GeneID:11037 -> Biological process: GO:0006897 [endocytosis] evidence: IEA GeneID:11037 -> Biological process: GO:0030100 [regulation of endocytosis] evidence: IDA GeneID:11037 -> Cellular component: GO:0030131 [clathrin adaptor complex] evidence: IEA
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