2024-04-27 20:37:43, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001270449 1466 bp mRNA linear PRI 21-NOV-2023 DEFINITION Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 4, mRNA. ACCESSION NM_001270449 VERSION NM_001270449.2 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 1466) AUTHORS Wang Y, Liu X, Wang M, Wang Y, Wang S, Jin L, Liu M, Zhou J and Chen Y. TITLE UBE3B promotes breast cancer progression by antagonizing HIF-2alpha degradation JOURNAL Oncogene 42 (46), 3394-3406 (2023) PUBMED 37783786 REMARK GeneRIF: UBE3B promotes breast cancer progression by antagonizing HIF-2alpha degradation. REFERENCE 2 (bases 1 to 1466) AUTHORS Li K, Wang F, Yang ZN, Zhang TT, Yuan YF, Zhao CX, Yeerjiang Z, Cui B, Hua F, Lv XX, Zhang XW, Yu JJ, Liu SS, Yu JM, Shang S, Xiao Y and Hu ZW. TITLE TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation JOURNAL Nat Commun 11 (1), 6316 (2020) PUBMED 33298911 REMARK GeneRIF: TRIB3 promotes MYC-associated lymphoma development through suppression of UBE3B-mediated MYC degradation. Publication Status: Online-Only REFERENCE 3 (bases 1 to 1466) AUTHORS Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S and Abdel-Hamid MS. TITLE Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum JOURNAL Am J Med Genet A 182 (12), 2857-2866 (2020) PUBMED 32949109 REMARK GeneRIF: Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. REFERENCE 4 (bases 1 to 1466) AUTHORS Yilmaz R, Szakszon K, Altmann A, Altunoglu U, Senturk L, McGuire M, Calabrese O, Madan-Khetarpal S, Basel-Vanagaite L and Borck G. TITLE Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients JOURNAL Am J Med Genet A 176 (1), 187-193 (2018) PUBMED 29160006 REMARK GeneRIF: we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies. REFERENCE 5 (bases 1 to 1466) AUTHORS Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC and Campeau PM. TITLE Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails JOURNAL J Hum Genet 62 (4), 465-471 (2017) PUBMED 28003643 REMARK GeneRIF: Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain REFERENCE 6 (bases 1 to 1466) AUTHORS Szafranski K, Schindler S, Taudien S, Hiller M, Huse K, Jahn N, Schreiber S, Backofen R and Platzer M. TITLE Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns JOURNAL Genome Biol 8 (8), R154 (2007) PUBMED 17672918 REMARK GeneRIF: the apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed REFERENCE 7 (bases 1 to 1466) AUTHORS Girard A, Sachidanandam R, Hannon GJ and Carmell MA. TITLE A germline-specific class of small RNAs binds mammalian Piwi proteins JOURNAL Nature 442 (7099), 199-202 (2006) PUBMED 16751776 REFERENCE 8 (bases 1 to 1466) AUTHORS Gong TW, Huang L, Warner SJ and Lomax MI. TITLE Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing JOURNAL Genomics 82 (2), 143-152 (2003) PUBMED 12837265 REMARK GeneRIF: UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer REFERENCE 9 (bases 1 to 1466) AUTHORS Lomax MI, Gong TW, Cho Y, Huang L, Oh SH, Adler HJ, Raphael Y and Altschuler RA. TITLE Differential Gene Expression Following Noise Trauma in Birds and Mammals JOURNAL Noise Health 3 (11), 19-35 (2001) PUBMED 12689446 REFERENCE 10 (bases 1 to 1466) AUTHORS Lomax MI, Huang L, Cho Y, Gong TL and Altschuler RA. TITLE Differential display and gene arrays to examine auditory plasticity JOURNAL Hear Res 147 (1-2), 293-302 (2000) PUBMED 10962193 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA771082.1 and BC051266.1. On Aug 13, 2020 this sequence version replaced NM_001270449.1. Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]. Transcript Variant: This variant (4) contains an alternate 3' exon, compared to variant 1. This difference results in a distinct 3' UTR and 3' coding region and a protein (isoform 3) with a shorter and distinct C-terminus, compared to isoform 1. Variants 4-6 encode the same protein (isoform 3). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051266.1, SRR14038195.427617.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-18 DA771082.1 12-29 19-1466 BC051266.1 1-1448 FEATURES Location/Qualifiers source 1..1466 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.11" gene 1..1466 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="ubiquitin protein ligase E3B" /db_xref="GeneID:89910" /db_xref="HGNC:HGNC:13478" /db_xref="MIM:608047" exon 1..476 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 1 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:901371626" variation 2..3 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="aa" /replace="aaa" /db_xref="dbSNP:1245813444" variation 3 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1592856872" variation 4 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1042787717" variation 5 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1592856902" variation 6 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1400996089" variation 7 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874507794" variation 8 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:906514083" variation 9 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:930143553" variation 10..13 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="gggg" /replace="ggggg" /db_xref="dbSNP:1428656275" variation 14 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="c" /db_xref="dbSNP:1448301261" variation 16 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1355561958" variation 17 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1266047914" variation 18 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592856979" variation 20 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874511808" variation 22 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1047241162" variation 24 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1297097951" variation 25 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:888202092" variation 28 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:895227917" variation 29 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:573096712" variation 30 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1005716533" variation 31 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874515126" variation 33 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1017019186" variation 36 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1392069182" variation 37 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1874516423" variation 39 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1165578672" variation 41 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1458967273" variation 42 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:961614980" variation 43 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:994401488" variation 44 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:373859718" variation 45 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1005269430" variation 46 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:2135706362" variation 49 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592857120" variation 50 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1874520259" variation 54 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1026417924" variation 55 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:59975102" variation 56 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1211603334" variation 57 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592857169" variation 59 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874523002" variation 60 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874523498" variation 61 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1340107488" variation 62 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:904853464" variation 63 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1436757853" variation 65 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592857196" variation 73 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:771191233" variation 74 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:573548033" variation 75 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:910336362" variation 76 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1344603035" variation 80 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1592857243" variation 81..83 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="agt" /replace="agtagt" /db_xref="dbSNP:1360286865" variation 81 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874527484" variation 86 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874528337" variation 88 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1214388503" variation 89 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:2135706828" variation 90 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1274273859" variation 92 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1320650971" variation 93 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874530372" variation 95..98 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="cccc" /replace="ccccc" /db_xref="dbSNP:1874530828" variation 96 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874531252" variation 98 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874531675" variation 102 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1592857305" variation 105 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:191799657" variation 107 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874532915" variation 109 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874533362" variation 111 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874533897" variation 114 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1436203465" variation 116 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1003484059" variation 119 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1326086174" variation 120 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874535733" variation 121 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874536171" variation 130 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1390189715" variation 131 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1272626414" variation 132 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:28384415" variation 134 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1429928715" variation 135..164 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ggcctgcgg" /replace="ggcctgcgggtaggccggtagggcctgcgg" /db_xref="dbSNP:1391616143" variation 136 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874539018" variation 137 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1170515164" variation 142 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874540561" variation 143 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874541107" variation 144 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:956592615" variation 148 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874542498" variation 149 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1378037502" variation 150 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874544304" variation 151 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:989313485" variation 155 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1251102707" variation 156..176 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ggcctgcgg" /replace="ggcctgcggtccggcctgcgg" /db_xref="dbSNP:975362809" variation 158 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:562424196" variation 162 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:533084604" variation 163 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874547810" variation 164 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874548378" variation 166 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:191451600" variation 167 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1042333997" variation 168..169 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="gg" /db_xref="dbSNP:1346092428" variation 173 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874551550" variation 174 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874552472" variation 175 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1467134978" variation 177 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:562130992" variation 182 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1022044450" variation 186 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874555557" variation 187 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592857555" variation 188 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1874556684" variation 189 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:939403150" variation 190 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1309228569" variation 191 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874558558" variation 193 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:544716818" variation 194 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1162092002" variation 195 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:2135707935" variation 198 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:2135707973" variation 200..217 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ga" /replace="gagtggtggggctgggga" /db_xref="dbSNP:1331760859" variation 200 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1874560784" variation 206 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:968809281" variation 210 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1874562682" variation 211 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874563253" variation 215 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1413573067" variation 217 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592857657" variation 221 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1405494557" variation 224 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:979253076" variation 229 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1874566702" variation 233 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1191973329" variation 238 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1055047388" variation 239 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:895237768" variation 240..246 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="gcacagt" /db_xref="dbSNP:1473601848" variation 240 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1235829771" variation 241 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1566064211" variation 244 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1005559637" variation 247 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:911251095" variation 248 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:897298818" variation 252 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1207199913" variation 255..265 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="gg" /replace="ggccaggtcgg" /db_xref="dbSNP:1430392345" variation 258 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1328984588" variation 259 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1279245551" variation 260 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1342857064" variation 266 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1289486782" variation 268 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1230821956" variation 270 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874578085" variation 275 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:994725673" variation 278 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1231991016" variation 279 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874579792" variation 281 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1281951822" variation 284 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1555260870" variation 289 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1045582" variation 298 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1357120157" variation 300 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:182400134" variation 302 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1874583679" variation 303 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:867717014" variation 304 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874585018" variation 305 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1282379903" variation 311 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:765181442" variation 312 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1159753612" variation 314 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874587332" variation 315 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1214738387" variation 316 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:149176256" variation 317 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:910041443" variation 318 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874590423" variation 319 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1478719713" variation 322 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1874591564" variation 325 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1874592129" variation 326 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1473199118" variation 329 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1185683013" variation 331 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1417127331" variation 333 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874594460" variation 337 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1239425454" variation 338 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874595557" variation 343 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:567989143" variation 346 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1164517262" variation 351 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1269182753" variation 352 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1211078588" variation 353 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:2135709571" variation 356 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874598609" variation 360 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1592858192" variation 361 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874599765" variation 362 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:989198720" variation 363 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1382244961" variation 366 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1289869851" variation 367 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1045195355" variation 369 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874602937" variation 370 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874603484" variation 375 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1227242106" variation 376 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1399755167" variation 378 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874605176" variation 383 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:531604391" variation 386 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:914977787" variation 387 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874606859" variation 388 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1432478746" variation 389 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:762746894" variation 398 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:966600105" variation 399 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:763655323" variation 402 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:978324190" variation 403 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1592858356" variation 407 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1874611029" variation 409 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874611614" variation 412 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1413379413" variation 413..416 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ct" /replace="ctct" /db_xref="dbSNP:1348035560" variation 413 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1164076568" variation 414 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1874613972" variation 415 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1405994244" variation 416 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1416110675" variation 418 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:143237475" variation 419 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1874616388" variation 420 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1592858439" variation 424 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1874617545" variation 431 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1166891567" variation 434 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:550176822" variation 439 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1874619163" variation 442 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:892385654" variation 446 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1247025540" variation 449 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874620874" variation 450 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1009405053" variation 452 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:370992279" variation 453 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1190896691" variation 454 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1874623302" variation 458 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:868189525" variation 462 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1350142140" variation 463 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1246608637" variation 465 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:751273435" variation 471 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1874625951" exon 477..582 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 477..482 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="aaaaaa" /replace="aaaaaaa" /db_xref="dbSNP:1875453292" variation 479 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875453681" variation 482 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:927386104" variation 484..488 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="aa" /replace="aacaa" /db_xref="dbSNP:1367772245" variation 486 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:2135744181" variation 487 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875455397" variation 488 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1165435064" variation 489 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1425562194" variation 500 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="gggg" /db_xref="dbSNP:1261140780" variation 501 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1193110695" variation 505 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1488735946" variation 509 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:530940752" variation 512 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1220685559" variation 513 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:546293625" variation 515 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:79330589" variation 520 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1322942081" variation 521 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:770448267" variation 522 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:151208600" variation 524 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875463035" variation 526 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:940850624" variation 527 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875463964" variation 528 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1376302797" variation 534 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1029431217" variation 536 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1384825128" variation 538 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1040677512" variation 542 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875466300" variation 543 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:953345019" variation 544..548 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="tgatt" /replace="tgattgatt" /db_xref="dbSNP:1293980530" misc_feature 544..546 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="upstream in-frame stop codon" variation 544 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1459366193" variation 548 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875468773" variation 550 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1421472469" variation 551 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1592868208" variation 552 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1170016640" variation 555 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875470485" variation 557 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1875470833" variation 563 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:987438951" variation 564 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1019222913" variation 569 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1312922338" variation 572 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1592868251" variation 573 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1875473245" variation 574 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:543577405" variation 576 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592868277" variation 578 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875474840" variation 580 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875475259" variation 582 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1451330451" exon 583..764 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 583 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875840198" variation 584 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:981792778" variation 591 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875840993" variation 593 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1875841352" variation 594..608 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="gtt" /replace="gtttgcaaacatgtt" /db_xref="dbSNP:749669361" variation 602 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:913478208" CDS 604..1338 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /EC_number="2.3.2.26" /note="isoform 3 is encoded by transcript variant 4; HECT-type ubiquitin transferase E3B" /codon_start=1 /product="ubiquitin-protein ligase E3B isoform 3" /protein_id="NP_001257378.1" /db_xref="CCDS:CCDS58277.1" /db_xref="GeneID:89910" /db_xref="HGNC:HGNC:13478" /db_xref="MIM:608047" /translation="
MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDFFKADDPESTKRSALCIFKIARKLLFLFRIKEDNERFEKLCRSILSSMDAENEPKVWYVSLACSKDLTLLWIQQIKNILWYCCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRGKGESLRPAMNHICANIMGHLNQHGFYSVLQCCDGLFPDLVSYAPHNNPVRWSVGRSWYDWQLSR"
misc_feature 604..606 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="N-acetylmethionine. /evidence=ECO:0007744|PubMed:22814378; propagated from UniProtKB/Swiss-Prot (Q7Z3V4.3); acetylation site" variation 604 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:672601304" variation 605 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1170712242" variation 610 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:756283868" variation 611 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:142757108" variation 613 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1298801773" variation 614 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="t" /replace="tt" /db_xref="dbSNP:1422783452" variation 617 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:947630776" variation 618 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1230679297" variation 623 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875846932" variation 624 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:574539443" variation 626 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:749860136" variation 627 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:757679020" variation 628 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="aa" /db_xref="dbSNP:2135760065" variation 633 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1043652436" variation 634 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:779284561" variation 635 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875850206" variation 639 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="cc" /db_xref="dbSNP:1209051926" variation 640 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875850719" variation 642 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:141528351" variation 643 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:771722819" variation 645 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1197069615" variation 652 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:556951575" variation 653 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:746633699" variation 661 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1158534509" variation 662 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:147402736" variation 664 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:775981553" variation 666 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:761850046" variation 672 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1390527880" variation 674 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1221536610" variation 676 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1371996837" variation 678 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1384686521" variation 682 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1302906037" variation 684..685 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="gg" /db_xref="dbSNP:1345778773" variation 687 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:991276875" variation 688 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:765224973" variation 689 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:372604916" variation 690 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:375632180" variation 693 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1264619414" variation 694 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:766274696" variation 695 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:139172208" variation 702 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875864629" variation 703 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875865415" variation 712 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1156839669" variation 715 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:200114053" variation 718 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:764278999" variation 719 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:753826150" variation 724 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:757786448" variation 725 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:201620860" variation 726 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1160522616" variation 728 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1487035008" variation 735 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:376752676" variation 736 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1211985011" variation 739 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:149953168" variation 740 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:780380636" variation 745 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:746722966" variation 746 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:768162705" variation 748 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:776234508" variation 750 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:747561690" variation 753 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:144106525" variation 755 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1875876266" variation 757 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:773351206" variation 758 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:762970554" variation 759 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1246626895" variation 761 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:770898948" variation 763 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1469309911" variation 764 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1360420097" exon 765..885 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 766 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:942863566" variation 773 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:200272943" variation 777 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:770955936" variation 779 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:774229226" variation 781 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:148696226" variation 792 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:143536763" variation 793 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:776782001" variation 796 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:762004822" variation 798 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:765346165" variation 799 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1233510380" variation 800 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:750469973" variation 801 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1875918457" variation 802 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875918945" variation 804 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:763480991" variation 805 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1875919992" variation 807 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1337257519" variation 808 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:200964637" variation 812 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1875921601" variation 821 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1432546821" variation 822 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:113987841" variation 823 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1364332171" variation 826 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875924404" variation 827 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:755365552" variation 828 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1290597270" variation 833 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1300637036" variation 834 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1875926512" variation 836 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592874276" variation 837 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1310564232" variation 844 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1205668914" variation 846 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1369649065" variation 858..859 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="cc" /db_xref="dbSNP:771222229" variation 859 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:781608135" variation 865 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:201398969" variation 869 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:755799083" variation 876 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1475521028" variation 883 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1165829529" variation 885 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:777459573" exon 886..945 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 887 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592880506" variation 891 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:140603482" variation 897 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1244553082" variation 901 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1222047007" variation 904 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:766912979" variation 905 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1199490291" variation 906 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1410669159" variation 907 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:144343146" variation 909 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:774779282" variation 914 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1876368521" variation 916..927 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="agcagcatggat" /db_xref="dbSNP:746624505" variation 922 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:760065718" variation 923 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:767814601" variation 926 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1299963263" variation 928 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1321363024" variation 929 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1348349074" variation 932 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1876371444" variation 936 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1407069513" variation 939 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:369331998" variation 941 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:755856794" variation 943 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1294421149" variation 945 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1251727535" exon 946..1050 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 946 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1876447560" variation 948 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:764690321" variation 949 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:749905472" variation 951 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1441740882" variation 952 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:758290112" variation 953 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:779906381" variation 954 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592882265" variation 955 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:931189064" variation 960 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1362364657" variation 968 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:746811263" variation 970 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1430998068" variation 975 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1876453382" variation 978 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876453824" variation 979 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:151084567" variation 980 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1389721670" variation 982 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1876455979" variation 983 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1460709664" variation 984 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:555222003" variation 988 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1299450347" variation 993 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1876457940" variation 997 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:2135792403" variation 1000 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:749513015" variation 1004 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1391303373" variation 1005..1012 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ca" /replace="caagaaca" /db_xref="dbSNP:1566073964" variation 1005 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:771145796" variation 1006 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1427784978" variation 1007 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1876461074" variation 1008 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592882536" variation 1010 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:745905368" variation 1011 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1408975587" variation 1013 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1453746049" variation 1014 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1041175607" variation 1015 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1362582364" variation 1016 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:772714100" variation 1017 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:200936935" variation 1022 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:141063517" variation 1024 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:777101546" variation 1025 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1876466611" variation 1027 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876467095" variation 1028 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1264855195" variation 1030 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:2135792899" variation 1036..1037 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="ctagtttccacttttcttccttttgcattacagga" /db_xref="dbSNP:776177338" variation 1038 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:544149439" variation 1039 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1198546006" variation 1042 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:377462796" variation 1044 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:150249985" variation 1045 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:565231353" variation 1046 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:762458401" variation 1047 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1373877171" variation 1048 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:765868498" variation 1050 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:2135793160" exon 1051..1147 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 1062 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1876900887" variation 1067 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:2135817028" variation 1070 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1248965822" variation 1072 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:373717944" variation 1073 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:200429727" variation 1075 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1368293651" variation 1077 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:376690658" variation 1078 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1165032738" variation 1082 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:758659249" variation 1084 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:955106594" variation 1085 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="t" /db_xref="dbSNP:1566076563" variation 1086 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1428464363" variation 1087 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876906026" variation 1092 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876906478" variation 1093 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:2135817370" variation 1094 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:530591049" variation 1095 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:747033125" variation 1096 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:138001412" variation 1097 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:765124542" variation 1099 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1592889402" variation 1102 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:748598136" variation 1105 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:770252181" variation 1106 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:773418865" variation 1107 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876910821" variation 1108 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876911034" variation 1111 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:2135817652" variation 1112 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1435666324" variation 1116 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1271829487" variation 1119 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1876913023" variation 1121 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1198932029" variation 1123 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:748971736" variation 1124 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1040342535" variation 1125 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:61739922" variation 1128 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1249759605" variation 1131 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:773867430" variation 1135 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:375093429" variation 1138 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:200095998" variation 1139 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:201692069" variation 1140 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1876917236" variation 1142 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1696902011" variation 1143..1146 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="aaa" /replace="aaaa" /db_xref="dbSNP:1876917698" variation 1144 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:760512064" exon 1148..1233 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 1148 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877145151" variation 1153 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1428527485" variation 1154 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:763874814" variation 1159 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1566078009" variation 1160 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:199655024" variation 1162 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877147659" variation 1166 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:763884868" variation 1167 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:776578322" variation 1170 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1877149680" variation 1171 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1310221240" variation 1174 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:761632028" variation 1176 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1387693317" variation 1178 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:765118724" variation 1179 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1311385876" variation 1181 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1877152425" variation 1183 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1287292615" variation 1186 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:970102463" variation 1187 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1364356672" variation 1189 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877154321" variation 1192 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1215174225" variation 1194 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1431978694" variation 1195 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1282787828" variation 1198 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:751887905" variation 1199 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1225929423" variation 1201 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1264333476" variation 1205 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:958410473" variation 1207 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:566986756" variation 1210 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877158872" variation 1212 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1214100181" variation 1214 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1012775112" variation 1216 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:767667166" variation 1224 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="t" /db_xref="dbSNP:1190118175" variation 1225 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877161916" variation 1226 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:752671363" variation 1228 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877163172" variation 1229 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1481365359" variation 1230 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:112530776" variation 1231 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:778076862" variation 1233 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1398668360" exon 1234..1466 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /inference="alignment:Splign:2.1.0" variation 1234 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:2135837871" variation 1236 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:775634353" variation 1237 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1566078767" variation 1240..1241 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ga" /replace="gaga" /db_xref="dbSNP:1877284006" variation 1241 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1378678231" variation 1244 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:976467733" variation 1245 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877285498" variation 1248 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1201536331" variation 1251 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:760931393" variation 1252 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:778266028" variation 1253 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1462807477" variation 1258 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1188450076" variation 1259 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1372753245" variation 1265 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:751875776" variation 1268 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877292643" variation 1269 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1253178562" variation 1276 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1474428308" variation 1278 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1199186905" variation 1279 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1169736076" variation 1280 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:191026455" variation 1284 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1469798552" variation 1292 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:922246082" variation 1299 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:764202583" variation 1300 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:535697686" variation 1301..1302 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="t" /replace="tt" /db_xref="dbSNP:1055372414" variation 1306 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:894180590" variation 1307 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1317144361" variation 1308 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1281908003" variation 1309 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1328334317" variation 1313 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1324337071" variation 1314 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1432277913" variation 1318 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1270342228" variation 1320 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:929614264" variation 1321 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:982680639" variation 1324 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877303817" variation 1325..1326 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="caacaag" /db_xref="dbSNP:1877304281" variation 1326 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1877304795" variation 1327 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1592894737" variation 1329 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:753878565" variation 1332 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1264953456" variation 1333 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1323943636" variation 1334 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1204334678" variation 1335 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1037456689" variation 1336 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877308803" variation 1337 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1358776568" variation 1341 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877310383" variation 1343 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1445553966" variation 1348 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1420553532" variation 1350 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1195409897" variation 1352..1353 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="tt" /replace="ttt" /db_xref="dbSNP:2135839446" variation 1354 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:557273493" variation 1355 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1480381636" variation 1358 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877313419" variation 1359 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:575646965" regulatory 1363..1368 /regulatory_class="polyA_signal_sequence" /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="hexamer: ATTAAA" variation 1363 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1432119134" variation 1369 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:879469434" variation 1370 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1158414385" variation 1371 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1382323765" variation 1372 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1045294298" variation 1375 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1298251722" variation 1379 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:2135839830" variation 1380 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877317923" polyA_site 1383 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="major polyA site" variation 1383 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1344270187" variation 1385..1390 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="atg" /replace="atgatg" /db_xref="dbSNP:1402593971" variation 1386 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:765671626" variation 1388 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877320034" variation 1392 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:1592894956" variation 1393..1395 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="t" /replace="ttt" /db_xref="dbSNP:1193838757" variation 1395 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1374254657" variation 1397..1404 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="aa" /replace="aattttaa" /db_xref="dbSNP:1455941782" variation 1404 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="c" /db_xref="dbSNP:890269268" variation 1408..1409 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="tg" /replace="tgtg" /db_xref="dbSNP:1313343045" variation 1409 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /db_xref="dbSNP:1877323631" variation 1412 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1162222914" variation 1416 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:539760131" variation 1426 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1877325190" variation 1428 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="" /replace="g" /db_xref="dbSNP:1390990054" variation 1429..1435 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="ttttttt" /replace="tttttttt" /db_xref="dbSNP:1462752921" variation 1429 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1297662836" variation 1433 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1008800193" variation 1441 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:377311778" regulatory 1445..1450 /regulatory_class="polyA_signal_sequence" /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="hexamer: ATTAAA" variation 1447 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="g" /replace="t" /db_xref="dbSNP:1017469550" variation 1450 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1318914990" variation 1451 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1592895098" variation 1453 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877329999" variation 1456 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="c" /replace="t" /db_xref="dbSNP:1161719322" variation 1463 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /replace="a" /replace="g" /db_xref="dbSNP:1877330907" polyA_site 1466 /gene="UBE3B" /gene_synonym="BPIDS; KOS" /note="major polyA site" ORIGIN
gaacaccgcggggcaagatggcggtagtgcgtcggctgctgccccgggtctggcagaactcgggtgttttgggctgagacagtggcagctgcggccccgaccccaagtgcggggacctccggcgaataaaggtcggcctgcgggtaggccggtagggcctgcggtccggcctgcgggagaactgggtcgtcagtcctccgagtggtggggctggggactttgagggagttggctctagggcacagtccctgcctggccaggtcggaggaacaagtgctgggatctggcgtgtgtgctccaggggctctttccgcggccctttccacctcttttcactttggggacggtaggcctttataaacggactaatgctgggtgatttgttcctgtggttgttgatgccgaggaaagactctgggccccaggactcacctaaactggagttcgaatactgttcgctcgctgtgtgaccttggaaaaaataacaagcttttctgaagtgagaagctgttctcagccacgagtcctgtgcaagatcactaatgattacctggcatttctgcgacacaggcaggtcctcagggtttgtgcaagtttgcaaacatgttcaccctgtctcagacctcgagagcatggttcatcgatagagcccgtcaggcacgagaagaaaggcttgtgcagaaggaacgggagcgggcagctgttgtgatccaggcccatgtccggagttttctctgtcggagtcgactgcagagagatatcaggagagagattgatgacttttttaaagcagatgaccctgagtccactaaaagaagtgcactttgtattttcaagattgccaggaaactgctgttcctattcagaatcaaagaggataatgagagatttgagaagttgtgtcgcagcatcctgagcagcatggatgctgagaatgagcctaaggtgtggtatgtgtccctggcttgttctaaggacctcaccctcctttggattcaacagatcaagaacattttgtggtactgctgtgattttctcaagcagctcaagcctgaaatcctgcaggactcccgactcatcaccctgtacctcacgatgcttgtcaccttcacagacacttcaacgtggaaaattcttcggggaaaaggtgaaagtcttcgaccagcgatgaaccacatttgtgcaaatataatgggacatctcaaccagcatggattttattctgtgctgcagtgctgtgatgggctgtttcctgatttggtttcatatgctcctcacaacaaccctgtgaggtggtccgttggcagaagctggtatgactggcagttgtctcgctagaggaaccttctacttcataccataattaaacggcttctaaaataatatgatgtctttaaattttaagtctggcattatttgtattagctgtttttttaactttattattaaagaatttctaaccataa
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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