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2024-04-26 10:25:26, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_015329 4853 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans)
(MAU2), mRNA.
ACCESSION NM_015329 XM_048457
VERSION NM_015329.3 GI:133922608
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 4853)
AUTHORS Braunholz,D., Hullings,M., Gil-Rodriguez,M.C., Fincher,C.T.,
Mallozzi,M.B., Loy,E., Albrecht,M., Kaur,M., Limon,J., Rampuria,A.,
Clark,D., Kline,A., Dalski,A., Eckhold,J., Tzschach,A.,
Hennekam,R., Gillessen-Kaesbach,G., Wierzba,J., Krantz,I.D.,
Deardorff,M.A. and Kaiser,F.J.
TITLE Isolated NIBPL missense mutations that cause Cornelia de Lange
syndrome alter MAU2 interaction
JOURNAL Eur. J. Hum. Genet. 20 (3), 271-276 (2012)
PUBMED 21934712
REMARK GeneRIF: specific novel mutations at the N-terminus of the
MAU2-interacting domain of NIBPL result in markedly reduced MAU2
binding.
Erratum:[Eur J Hum Genet. 2012 Mar;20(3):366]
REFERENCE 2 (bases 1 to 4853)
AUTHORS Seitan,V.C., Banks,P., Laval,S., Majid,N.A., Dorsett,D., Rana,A.,
Smith,J., Bateman,A., Krpic,S., Hostert,A., Rollins,R.A.,
Erdjument-Bromage,H., Tempst,P., Benard,C.Y., Hekimi,S.,
Newbury,S.F. and Strachan,T.
TITLE Metazoan Scc4 homologs link sister chromatid cohesion to cell and
axon migration guidance
JOURNAL PLoS Biol. 4 (8), E242 (2006)
PUBMED 16802858
REFERENCE 3 (bases 1 to 4853)
AUTHORS Watrin,E., Schleiffer,A., Tanaka,K., Eisenhaber,F., Nasmyth,K. and
Peters,J.M.
TITLE Human Scc4 is required for cohesin binding to chromatin,
sister-chromatid cohesion, and mitotic progression
JOURNAL Curr. Biol. 16 (9), 863-874 (2006)
PUBMED 16682347
REMARK GeneRIF: Human MAU-2 family member has weak similarity to yeast
Scc4 and is associated with Scc2, bound to chromatin from telophase
until prophase, and required for association of cohesin with
chromatin during interphase
REFERENCE 4 (bases 1 to 4853)
AUTHORS Choy,K.W., Wang,C.C., Ogura,A., Lau,T.K., Rogers,M.S., Ikeo,K.,
Gojobori,T., Lam,D.S. and Pang,C.P.
TITLE Genomic annotation of 15,809 ESTs identified from pooled early
gestation human eyes
JOURNAL Physiol. Genomics 25 (1), 9-15 (2006)
PUBMED 16368877
REFERENCE 5 (bases 1 to 4853)
AUTHORS Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
and Morton,C.C.
TITLE Isolation of novel and known genes from a human fetal cochlear cDNA
library using subtractive hybridization and differential screening
JOURNAL Genomics 23 (1), 42-50 (1994)
PUBMED 7829101
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC022543.3, AB020699.1, BY795974.2 and AC003030.1.
On Mar 22, 2007 this sequence version replaced gi:50726969.
##Evidence-Data-START##
Transcript exon combination :: AB020699.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-14 AC022543.3 12688-12701
15-338 AB020699.1 1-324
339-528 BY795974.2 307-496
529-2374 AB020699.1 515-2360
2375-4853 AC003030.1 25586-28064
FEATURES Location/Qualifiers
source 1..4853
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.11"
gene 1..4853
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/note="MAU2 chromatid cohesion factor homolog (C.
elegans)"
/db_xref="GeneID:23383"
/db_xref="HGNC:29140"
/db_xref="MIM:614560"
exon 1..315
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:374621421"
CDS 40..1881
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/note="sister chromatid cohesion 4; cohesin loading
complex subunit SCC4 homolog; protein MAU-2"
/codon_start=1
/product="MAU2 chromatid cohesion factor homolog"
/protein_id="NP_056144.3"
/db_xref="GI:133922609"
/db_xref="CCDS:CCDS32969.2"
/db_xref="GeneID:23383"
/db_xref="HGNC:29140"
/db_xref="MIM:614560"
/translation="
MAAQAAAAAQAAAAQAAQAEAADSWYLALLGFAEHFRTSSPPKIRLCVHCLQAVFPFKPPQRIEARTHLQLGSVLYHHTKNSEQARSHLEKAWLISQQIPQFEDVKFEAASLLSELYCQENSVDAAKPLLRKAIQISQQTPYWHCRLLFQLAQLHTLEKDLVSACDLLGVGAEYARVVGSEYTRALFLLSKGMLLLMERKLQEVHPLLTLCGQIVENWQGNPIQKESLRVFFLVLQVTHYLDAGQVKSVKPCLKQLQQCIQTISTLHDDEILPSNPADLFHWLPKEHMCVLVYLVTVMHSMQAGYLEKAQKYTDKALMQLEKLKMLDCSPILSSFQVILLEHIIMCRLVTGHKATALQEISQVCQLCQQSPRLFSNHAAQLHTLLGLYCVSVNCMDNAEAQFTTALRLTNHQELWAFIVTNLASVYIREGNRHQEVLYSLLERINPDHSFPVSSHCLRAAAFYVRGLFSFFQGRYNEAKRFLRETLKMSNAEDLNRLTACSLVLLGHIFYVLGNHRESNNMVVPAMQLASKIPDMSVQLWSSALLRDLNKACGNAMDAHEAAQMHQNFSQQLLQDHIEACSLPEHNLITWTDGPPPVQFQAQNGPNTSLASLL
"
misc_feature 40..384
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y6X3.2);
Region: Sufficient for interaction with NIPBL"
misc_feature 106..1749
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/note="Cohesin loading factor; Region: Cohesin_load;
pfam10345"
/db_xref="CDD:204454"
misc_feature 358..459
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y6X3.2);
Region: TPR 1"
misc_feature 1174..1275
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y6X3.2);
Region: TPR 2"
misc_feature 1414..1515
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y6X3.2);
Region: TPR 3"
misc_feature 1534..1635
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y6X3.2);
Region: TPR 4"
variation 43
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="t"
/db_xref="dbSNP:11285027"
variation 47
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:57787775"
variation 56
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:201501005"
variation 75
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375425486"
variation 132
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368209431"
variation 222
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200762424"
variation 258
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376118330"
variation 271
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:369371593"
variation 294
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:373027929"
variation 313
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376459555"
exon 316..333
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
exon 334..399
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 339
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:769267"
exon 400..495
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 404
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147650433"
variation 406
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:377208266"
variation 412
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:200147278"
variation 433
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:373976452"
exon 496..590
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 507
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199781947"
variation 528
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:2074090"
variation 537
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377473235"
variation 558
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200212304"
variation 561
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:117955413"
variation 567
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:375537806"
variation 585
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368252240"
exon 591..618
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 615
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:368088357"
exon 619..774
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 635
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:202113927"
variation 656
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:369228779"
variation 672
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:182870917"
variation 768
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:201275381"
exon 775..921
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 826
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370340663"
variation 867
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373006909"
exon 922..1012
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 948
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371904156"
variation 960
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375842161"
exon 1013..1116
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1025
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200527818"
variation 1104
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199766720"
variation 1107
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369999842"
exon 1117..1194
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1134
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:370992314"
variation 1150
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:371904513"
exon 1195..1260
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1200
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:201742988"
variation 1228
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142709985"
variation 1233
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201036159"
variation 1251
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:151003145"
exon 1261..1347
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1266
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:187410457"
variation 1291
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375191199"
variation 1293
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140873060"
variation 1308
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373621181"
exon 1348..1397
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1357
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:372392083"
variation 1377
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:150150358"
variation 1380
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:372651921"
variation 1389
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:61733824"
exon 1398..1475
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1401
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:142482998"
variation 1467
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:146468051"
exon 1476..1587
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1527
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139047356"
variation 1545
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:375969783"
exon 1588..1678
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1623
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368722872"
variation 1662
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:372700362"
exon 1679..1806
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1701
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:184450529"
variation 1722
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376815890"
variation 1746
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149341168"
exon 1807..4853
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/inference="alignment:Splign:1.39.8"
variation 1827
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:375769217"
variation 1828
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369902980"
variation 1884
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:376100898"
variation 1891
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:117386879"
variation 1907
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376931630"
variation 1918
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:77536717"
variation 1919
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:373075390"
variation 1925
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376077590"
variation 1926
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370354072"
variation 1987
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111867050"
variation 2023
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:182046838"
variation 2078
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:150977551"
variation 2147
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:186424858"
variation 2175
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373374982"
variation 2287
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:114834383"
variation 2328
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:189278494"
variation 2361
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:79193095"
variation 2375
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:756997"
variation 2376
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:734872"
variation 2387
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370144014"
variation 2481
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:372964763"
variation 2513
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:113803802"
variation 2518
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:375858859"
variation 2527
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:370816857"
variation 2552..2573
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="acacgggtgtgcatgtggatgc"
/db_xref="dbSNP:376692676"
variation 2634
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:181751333"
variation 2636
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147799802"
variation 2741
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:186857554"
variation 2775..2776
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="t"
/db_xref="dbSNP:200959995"
variation 2790
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375074630"
variation 2829
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:191451744"
variation 2835
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2285626"
variation 2911
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:141073957"
variation 2957
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150296001"
variation 3055..3056
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="c"
/db_xref="dbSNP:376042469"
variation 3093
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:369834439"
variation 3116
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:191299157"
variation 3185
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:73526581"
variation 3227
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:2285627"
variation 3286
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="t"
/db_xref="dbSNP:2285628"
variation 3314
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:79994593"
variation 3315..3316
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="gt"
/db_xref="dbSNP:71790311"
variation 3338
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:372859479"
variation 3550
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:118029212"
variation 3567
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:3764568"
variation 3605
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:10422298"
variation 3653
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:185237934"
variation 3815
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:2965196"
variation 3843
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:137951048"
STS 3866..3967
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/standard_name="RH11565"
/db_xref="UniSTS:50984"
variation 3907
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:189708223"
variation 3940
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:192867666"
variation 3945
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:117970794"
variation 3946
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:369332856"
variation 3964
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:143405249"
variation 3993
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:182060591"
variation 4000
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="g"
/db_xref="dbSNP:13964"
variation 4024
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:15622"
variation 4100
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:186618264"
variation 4135
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138932475"
variation 4137
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:142154551"
variation 4178
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="c"
/db_xref="dbSNP:149760745"
variation 4179
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace=""
/replace="a"
/db_xref="dbSNP:113101419"
variation 4229
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:369519971"
variation 4306
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:187804709"
variation 4312
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:146319019"
variation 4314
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:138317223"
variation 4338
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:190769385"
variation 4386
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:116834891"
variation 4490
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:141914615"
variation 4498
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:116699333"
variation 4585
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:117586941"
variation 4586
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="g"
/db_xref="dbSNP:10403731"
STS 4644..4814
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/standard_name="T03529"
/db_xref="UniSTS:22084"
variation 4744
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="a"
/replace="c"
/db_xref="dbSNP:183519636"
variation 4750
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="g"
/replace="t"
/db_xref="dbSNP:188564737"
variation 4783
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:367696505"
variation 4838
/gene="MAU2"
/gene_synonym="KIAA0892; mau-2; MAU2L; SCC4"
/replace="c"
/replace="t"
/db_xref="dbSNP:114665462"
ORIGIN
gcctccctgtggcggcggcttgttgttgtggaggccaaaatggcggctcaggcggcggcagcggcccaggcggcggcggcccaggctgcgcaggccgaggcggccgactcgtggtacctggcgcttctgggcttcgctgagcacttccgcacttccagcccgcccaaaatccgcctgtgcgtgcactgcctgcaggccgtgttccccttcaagccgccgcagcgcatcgaggcccgtacacacctgcagctgggctccgttctctatcaccacaccaagaacagcgagcaggcgcgcagccacctggagaaggcgtggttgatatcacagcaaatcccgcagttcgaagatgttaaatttgaagcagcaagtctgttgtctgaattgtactgtcaagagaattccgttgatgcagcaaagccgctgctgcggaaggcgatccagatctcacagcagaccccatattggcactgccgcctgctcttccagctcgctcaactgcacacgcttgagaaggacctggtgtcggcctgtgacctcctgggtgtaggggccgagtacgcccgggtggtgggatctgaatacacacgggcgctgttcctcctcagcaaggggatgctgctgctgatggagcgaaagctgcaggaggtgcacccgctgctgaccctctgcgggcagatcgtggagaactggcaggggaaccccatccagaaggagtcgctgcgtgtcttcttcctggtgctccaggtcacccactatctggatgccgggcaggtgaagagcgtgaagccgtgtctgaagcagctgcagcagtgcatccagaccatctccacactgcacgatgatgagatcctgcccagcaaccccgctgacctcttccactggctgcccaaggagcacatgtgtgtgcttgtctacctggtgactgtgatgcactccatgcaggccggctacctggagaaggcgcagaagtacacggacaaggccctcatgcagctggagaagctcaagatgctggactgcagccccatcctgtcatccttccaagtgatcctgctggagcacatcatcatgtgccgccttgtcacgggtcacaaggccacggcgctgcaggagatctcccaggtctgccagctgtgccagcagtccccccggctcttctccaaccatgcagcacagctgcacacattgctgggcctgtactgtgtctctgtcaactgcatggacaacgcggaagcccagttcaccacggccctgcggctcaccaaccaccaggagctgtgggccttcatcgtcaccaacctggcgagtgtgtatatacgggaaggaaatagacaccaagaggtactctacagtctgctggagaggatcaacccggaccacagcttccctgtcagctcgcactgcctccgagcagccgccttctatgtgcgtgggctcttctccttcttccagggacgctacaacgaggccaagcgatttctgcgggaaactctgaagatgtccaatgctgaggacctgaaccggctcacagcctgctccctcgtgcttctgggccacatcttctatgtgctgggaaaccacagggagagtaacaacatggtggtgcctgccatgcagctcgccagcaagatcccggacatgtcggtacagctgtggtcgtcagcactgctgagagacctgaataaagcctgtgggaacgccatggatgcccatgaagccgcccagatgcaccagaacttctcgcagcagctgctccaggaccacattgaggcctgcagcctccccgaacacaacctcatcacgtggacagacggtccaccccccgtgcagttccaagctcagaatggacccaacaccagcctggccagcctcctgtgaggccttgatggggccatccagctccgcagggcctgcgcgtctccggcttccacccagacggcactcaagcctgcccccgaggcgtgcttccttcctgattgtctctagagcttccaagtcctgggaatgtgcggggccagtccctgccctcccaggaggggtggtagccgttcccacctcgcagcaggacccccagtgcagaggctcacaggtggcacacaggcgctgtctctccagagccatccttcagagtggacctcagtgccagtcctgcctcagcatctgggtcacgtcggccaggagtagggtgcaggcctccagcaggtcctaatcctgtgtgccagggcaggcagtgccccaggggcaccacgcctgactctccatcacccaggccttgatgccgagcgggagtagagtgtttcctctgctcaaggcaatttccagagcccggatgccagtttctggcctgaatttggagggaagaagtaatggcgctagtgtgggacgaagcacagatcccagcacttttcccagctttctctccagcatcagtccctgcagcagctggggcctctggtcaggaaccctcagggacccaggaactcagcttccaaacatctgcaccttgaccggactcgccatcccgccgtgggggtgcaggtgattgtaaacacgggtgtgcatgtggatgcacacgggtgtgcggtgaagatctgtggagatggagctgggagctgaggctcctgttgcaccagccaccttcccccatcttgtggctgctgaggggcaggaagcgggggagtgggctcgtctcctaaatttaagatcacctcctcagctagcttagagtgcgtggcacgggccccccgcccccgagatctggagcccagggactttcttcctggcagatctgtggccttccctgctcagcctcttggtccccccactccctccaccgcctcaccttccctgctgggtctctggggcacagtgtgaaacccgcaccctagccaggccccagggagcctccgctgggcccagacagcagcgtttggttttatccacttttcttggataatcaggaggtgccccagtggtcacagtgtggcattccgagttggggcgggtggtcgggtcaagatagcagcagcaggtgtcagggctcaagacaccaccccctccagcttctggggcccaggagcctctccctgctacagggggtgggggtcctgctcagcagggtaggtggtggttttaggtcttgtcaccctcactcagtggaactgcctctgggagctttggcgtctgtgactaaagggacgctggattgctcaggtcagctgcttggggctcccaggctgggtgtgccttagccacaggcagggctgtcaataacccccttcctcactggccaccacctgacatcagcaccagtgacaggctggtcagagggcggggctggtgagggtttgtcctaagaggaccaccgccatctctgggtctccagggggagagcctggccctgtcctttgctacccagggctgcccccaggcccatgaagccaataggagagcgtgtggcactggcccacaaactgtccctgtcctgtcttcctcccgagccatggcctctgctagctccaccttgaaggagccccccacatcctcccctacatcccagagatgccaccacttgtgtctccacaatgtgctcctgcccacccgggttccgcactgtccgacccctgcacaccactcatgtcaccacggcgtgcatcatgttcatccccatctatttatttaagcctttctttgcttgtagggcattttgtatgtagagcagttgaaaacagaacctcagaacttaacatctgtcctgatgttaaagtgcttttcatgaccaccctgttatctatgtatatgtaaagttaaggatgagatcttaagtttacaattaaaaactcagtactcaatatttaatattctactcgagctttatggaagccaaatcatgtgcatgtgtgtgtgtgcgtgtgtgcaagctttgaacctccttccacagccgcatcttctcatgacacaaagcttttgataagtactttcctgtgggtcgctcagcgcctcatagcatctcattcaattgcaagaatagaggccagacacggtggcgcatgcctgtagtcccagctaactgggaggctgaggcaggaggatcacttgagcccaggagattgaggctgcagtgagcatgatcgcgacactgcactccagcctgggtgacggtgagactttgtctcaaaaaaaaaaaaaaaaacaatggaaggcagacagcaagtccctgaggacacatcacacagtgtcctgtagctaagtgtctaggaaaaaacaaaaactccaaacccttcagtggatgaggacaaggtcgcagaaaggcattctgttgacagatgaacagccgaaagctggccagaccctcctgtatgcctctgcccttgtcctgtgggttgagggggtctgaccaggaggccacctacagcaggaagtgaggctgccatgtttccttgagacacagctgcctctccccagctctgtccctgtagtcacctgccggtgggcgaggatcctctccctgggataagcactcccagccccgtttatcagaaacacaggcaaggaaattggaactgccacccagcccagcatggtggctcaattggttggttgcgttgtcagttgtctcttcgttttgttaaggtttttaataagtacgtttggcataatgtcttttaatgggtttgtaatatttgtaacggttttagcagcctataacttttcagctggtgcttttacttagggaaaaaaacaatttgtaaatacagaacattgtttaaaagacataaccatagaacatagcttcctgtttgtggattttgtttcctatatattcaaagtaaaatgacttacaggagcca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23383 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:23383 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
GeneID:23383 -> Biological process: GO:0000278 [mitotic cell cycle] evidence: TAS
GeneID:23383 -> Biological process: GO:0000910 [cytokinesis] evidence: TAS
GeneID:23383 -> Biological process: GO:0034088 [maintenance of mitotic sister chromatid cohesion] evidence: IMP
GeneID:23383 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
GeneID:23383 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:23383 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IDA
GeneID:23383 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:23383 -> Cellular component: GO:0032116 [SMC loading complex] evidence: IDA
GeneID:23383 -> Cellular component: GO:0032116 [SMC loading complex] evidence: IMP
by
@meso_cacase at
DBCLS
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