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2024-04-26 01:36:57, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_017950 4311 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript
variant 1, mRNA.
ACCESSION NM_017950 XM_371082 XM_930250 XM_934521 XM_942690 XM_946231
VERSION NM_017950.3 GI:343183423
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 4311)
AUTHORS Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
TITLE Loci associated with N-glycosylation of human immunoglobulin G show
pleiotropy with autoimmune diseases and haematological cancers
JOURNAL PLoS Genet. 9 (1), E1003225 (2013)
PUBMED 23382691
REFERENCE 2 (bases 1 to 4311)
AUTHORS Blanchon,S., Legendre,M., Copin,B., Duquesnoy,P., Montantin,G.,
Kott,E., Dastot,F., Jeanson,L., Cachanado,M., Rousseau,A.,
Papon,J.F., Beydon,N., Brouard,J., Crestani,B., Deschildre,A.,
Desir,J., Dollfus,H., Leheup,B., Tamalet,A., Thumerelle,C.,
Vojtek,A.M., Escalier,D., Coste,A., de Blic,J., Clement,A.,
Escudier,E. and Amselem,S.
TITLE Delineation of CCDC39/CCDC40 mutation spectrum and associated
phenotypes in primary ciliary dyskinesia
JOURNAL J. Med. Genet. 49 (6), 410-416 (2012)
PUBMED 22693285
REMARK GeneRIF: Aiming to delineate the CCDC39/CCDC40 mutation spectrum
and associated phenotypes, a large cohort of patients with IDA
defects were screened. Biallelic CCDC39 or CCDC40 mutations were
identified in 30/34 unrelated families with IDA defects.
REFERENCE 3 (bases 1 to 4311)
AUTHORS Becker-Heck,A., Zohn,I.E., Okabe,N., Pollock,A., Lenhart,K.B.,
Sullivan-Brown,J., McSheene,J., Loges,N.T., Olbrich,H.,
Haeffner,K., Fliegauf,M., Horvath,J., Reinhardt,R., Nielsen,K.G.,
Marthin,J.K., Baktai,G., Anderson,K.V., Geisler,R., Niswander,L.,
Omran,H. and Burdine,R.D.
TITLE The coiled-coil domain containing protein CCDC40 is essential for
motile cilia function and left-right axis formation
JOURNAL Nat. Genet. 43 (1), 79-84 (2011)
PUBMED 21131974
REMARK GeneRIF: CCDC40 mutations in humans result in a variant of primary
ciliary dyskinesia characterized by misplacement of the central
pair of microtubules and defective assembly of inner dynein arms
and dynein regulatory complexes.
REFERENCE 4 (bases 1 to 4311)
AUTHORS Wang,J., Lin,J., Chang,Y., Li,P. and Yang,Y.
TITLE MCM3AP, a novel HBV integration site in hepatocellular carcinoma
and its implication in hepatocarcinogenesis
JOURNAL J. Huazhong Univ. Sci. Technol. Med. Sci. 30 (4), 425-429 (2010)
PUBMED 20714864
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB230102.1, BC035251.1,
DA842356.1, AB046860.1 and AW300891.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 10, 2011 this sequence version replaced gi:148664196.
Summary: This gene encodes a protein that is necessary for motile
cilia function. It functions in correct left-right axis formation
by regulating the assembly of the inner dynein arm and the dynein
regulatory complexes, which control ciliary beat. Mutations in this
gene cause ciliary dyskinesia type 15, a disorder due to defects in
cilia motility. Alternative splicing results in multiple transcript
variants. [provided by RefSeq, Aug 2011].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (1). There are no
publicly available full-length transcripts representing this
variant, but it is supported by partial transcript alignments and
by data in PMID:21131974.
##Evidence-Data-START##
RNAseq introns :: single sample supports all introns ERS025085
[ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-11 DB230102.1 1-11
12-237 BC035251.1 5-230
238-583 DA842356.1 218-563
584-1115 BC035251.1 577-1108
1116-4289 AB046860.1 622-3795
4290-4311 AW300891.1 5-26 c
FEATURES Location/Qualifiers
source 1..4311
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q25.3"
gene 1..4311
/gene="CCDC40"
/gene_synonym="CILD15"
/note="coiled-coil domain containing 40"
/db_xref="GeneID:55036"
/db_xref="HGNC:26090"
/db_xref="MIM:613799"
exon 1..60
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
misc_feature 20..22
/gene="CCDC40"
/gene_synonym="CILD15"
/note="upstream in-frame stop codon"
CDS 32..3460
/gene="CCDC40"
/gene_synonym="CILD15"
/note="isoform 1 is encoded by transcript variant 1;
coiled-coil domain-containing protein 40"
/codon_start=1
/product="coiled-coil domain-containing protein 40 isoform
1"
/protein_id="NP_060420.2"
/db_xref="GI:148664197"
/db_xref="CCDS:CCDS42395.1"
/db_xref="GeneID:55036"
/db_xref="HGNC:26090"
/db_xref="MIM:613799"
/translation="
MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVETEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQGFQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEPVIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLNRQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERRQKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQVVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSEACTEIDAISVEKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTETEATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQDQLEQMILTEELQAIRQAIQGELELRRKTDAAIREKLQEHMTSNKTTKYFNQLILRLQKEKTNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQDVKKVNELITNSQSEISRRTILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKAVQAQVTWLRLQQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDLKKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQLVEAEHQIMLWEKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRAMELAVARRETVTTQAEGQRKMDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELEETQRNVSSSLLEKQEKLSVIQADFDTLEADLTRLGALKRQNLSEIVALQTRLKHLQAVKEGRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQFQEALHKVSQMIANKLESPGPS
"
misc_feature 2369..2668
/gene="CCDC40"
/gene_synonym="CILD15"
/note="BRE1 E3 ubiquitin ligase; Region: BRE1; pfam08647"
/db_xref="CDD:192111"
variation 59
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:377599647"
exon 61..124
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 63
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:111822347"
variation 76
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:370072666"
variation 82
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:141650385"
variation 84
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376944255"
exon 125..583
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 140
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:370705321"
variation 173
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:2289526"
variation 211
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:185006459"
variation 221
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:367783575"
variation 238
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:2289527"
variation 270
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:190249222"
variation 288
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:202220442"
variation 305
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376842482"
variation 347
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368664430"
variation 365
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201709592"
variation 415
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375586063"
variation 430
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:371207249"
variation 431
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201191082"
variation 469
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:147879748"
variation 470
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369439725"
variation 520
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372917306"
variation 535
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:74000351"
variation 537
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369066468"
variation 538
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:2885349"
variation 583
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:141588728"
exon 584..707
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 596
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372456780"
variation 629
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200292678"
variation 638
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:367978204"
variation 655
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:370581662"
variation 661
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:117419007"
variation 662
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:150615436"
variation 668
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372360189"
variation 679
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:375350606"
variation 691
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200678214"
variation 692
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371890970"
variation 697
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199671771"
exon 708..886
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 727
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200710012"
variation 728
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201815496"
variation 730
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:9893189"
variation 752
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201924332"
variation 787
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:374154296"
variation 790
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:183808038"
variation 803
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200614903"
variation 824
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377613873"
variation 865
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:150318323"
variation 881
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201042940"
variation 886
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200034484"
exon 887..970
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 891
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201898386"
variation 904
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:2289531"
variation 932
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201223986"
variation 933
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:191632512"
exon 971..1190
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 977
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:61998241"
variation 993
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:114740534"
variation 997
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369089505"
variation 1025
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:371604414"
variation 1037
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376368846"
variation 1056
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201057426"
variation 1061
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:374337192"
variation 1063
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:377663823"
variation 1082
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369698429"
variation 1083
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:61736668"
variation 1088
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:202123909"
variation 1090
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:374667214"
variation 1098
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200448007"
variation 1099
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377156300"
variation 1106
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:370338926"
variation 1107
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373746597"
variation 1120
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375609567"
variation 1136
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371071557"
variation 1140
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:77027689"
variation 1154
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:61734951"
variation 1158
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:372392201"
variation 1162
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:74692882"
variation 1163
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:116795025"
variation 1169
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199564182"
variation 1175
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:2289532"
variation 1182
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:185083705"
exon 1191..1348
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 1194
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199948075"
variation 1195
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:367861877"
variation 1211
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:375423897"
variation 1218
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:200701665"
variation 1232
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201126001"
variation 1245
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:370081372"
variation 1251
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:141185078"
variation 1253
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377484770"
variation 1259
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:370948871"
variation 1265
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200512481"
variation 1278
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199666629"
variation 1279
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:375199947"
variation 1306
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:145013523"
variation 1311
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:370720427"
variation 1333
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:375163840"
variation 1334
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:62000409"
variation 1343
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:371595543"
variation 1346
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907091"
exon 1349..1471
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 1357
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369063338"
variation 1369
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:61734950"
variation 1376
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907093"
variation 1403
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372976809"
variation 1406
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:183345922"
variation 1410
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:201576715"
variation 1445
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:187993089"
exon 1472..1593
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 1476
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:367601192"
variation 1480
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:116824266"
variation 1487
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375800869"
variation 1490
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:185157579"
variation 1497
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:61739354"
variation 1498
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200154414"
variation 1499
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200902099"
variation 1510
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:201739201"
variation 1511
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200858130"
variation 1512
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200084360"
variation 1540
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:200124291"
variation 1547
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375904127"
variation 1561
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368929374"
variation 1562
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:59978698"
variation 1576
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200526079"
variation 1586
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:377717807"
exon 1594..1837
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 1605
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200272404"
variation 1628
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:370166011"
variation 1634
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201164121"
variation 1638
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:375662034"
variation 1675
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368624849"
variation 1701
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200236937"
variation 1704
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:191736683"
variation 1711
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201481334"
variation 1745
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199786478"
variation 1752
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:202093340"
variation 1753
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:201559168"
variation 1770
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200815406"
exon 1838..2020
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 1855
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371383125"
variation 1914
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376363442"
variation 1920
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:61749058"
variation 1921
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:35578653"
variation 1928
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200551690"
variation 1980
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201064110"
variation 1982
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:387907092"
exon 2021..2266
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2028
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:370564898"
variation 2036
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373744833"
variation 2044
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:375603538"
variation 2048
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:115850223"
variation 2082
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200542971"
variation 2092
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:189617808"
variation 2099
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201907038"
variation 2116
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:371963548"
variation 2117
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:374963474"
variation 2128
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:141983079"
variation 2183
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:368063104"
variation 2190
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201407989"
variation 2200
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:200641382"
variation 2223
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376612893"
variation 2246
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:367616783"
variation 2257
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:72849355"
variation 2258
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201166295"
variation 2260
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:377219039"
exon 2267..2480
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2282
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:141343307"
variation 2286
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:117203086"
variation 2321
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:375753787"
variation 2324
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:199850214"
variation 2330
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373560340"
variation 2341
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376945782"
variation 2342
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:371360520"
variation 2354
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:60684213"
variation 2363
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:202075842"
variation 2366
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:192776296"
variation 2367
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:183809462"
variation 2403
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375170974"
variation 2408
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:367812804"
variation 2418
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:139435501"
variation 2449
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:371612109"
exon 2481..2650
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2491
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369702545"
variation 2518
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372937081"
variation 2519
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:374928230"
variation 2527
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:369073881"
variation 2528
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376911979"
variation 2545
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372524775"
variation 2570
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:376872623"
variation 2585
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:371138852"
variation 2607
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373825810"
variation 2615
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201858385"
variation 2626
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201254503"
variation 2632
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200841842"
variation 2635
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:61749027"
variation 2639
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:61749025"
variation 2640
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373717036"
variation 2643
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:367596393"
variation 2647
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372369514"
exon 2651..2742
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2683
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:368398257"
variation 2698
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369253136"
variation 2701
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:371516381"
variation 2711
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375004715"
variation 2713
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:4889815"
variation 2724
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373525552"
exon 2743..2863
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2782
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:138219539"
variation 2815
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:118143944"
variation 2816
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:59896146"
variation 2823
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:202141933"
variation 2832
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143374313"
variation 2843
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:374752606"
exon 2864..3052
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 2899
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:1982243"
variation 2906
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:376073190"
variation 2907
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369114517"
variation 2923
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146360951"
variation 2931
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:61686936"
variation 2970
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:201104817"
variation 2986
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201511980"
variation 2989
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:78945041"
variation 2998
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:199575834"
variation 2999
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200958035"
variation 3027
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201293301"
variation 3030
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369512832"
variation 3043
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:372975825"
exon 3053..3211
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 3058
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:79588289"
variation 3059
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:146119288"
variation 3061
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:12952612"
variation 3062
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:368028005"
variation 3077
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:117307093"
variation 3094
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200650391"
variation 3131
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:367614851"
variation 3145
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372856318"
variation 3161
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:377222257"
variation 3163
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:369736890"
variation 3172
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:373643308"
variation 3179
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:111550470"
variation 3182
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:201599478"
variation 3193
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:375433835"
variation 3207
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200902434"
exon 3212..4298
/gene="CCDC40"
/gene_synonym="CILD15"
/inference="alignment:Splign:1.39.8"
variation 3215
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:369522039"
variation 3225
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:372935611"
variation 3227
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:374932269"
variation 3241
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:56407805"
variation 3243
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:142135083"
variation 3260
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:201877332"
variation 3273
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:372541653"
variation 3280
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:145998578"
variation 3294
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200145777"
variation 3304
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:370134836"
variation 3319
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:373348755"
variation 3344
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:200610668"
variation 3352
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:377384113"
variation 3368
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:201250105"
variation 3369
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:368814379"
variation 3371
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:61740509"
variation 3379
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:377559639"
variation 3380
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:145595957"
variation 3385
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:374909386"
variation 3394
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:367605498"
variation 3432
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="t"
/db_xref="dbSNP:372870872"
variation 3434
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:374530715"
variation 3439
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:186591691"
variation 3448
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:2304854"
variation 3455
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:148900528"
variation 3464
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369268839"
variation 3475
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:2304853"
variation 3477
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:202179507"
STS 3485..3619
/gene="CCDC40"
/gene_synonym="CILD15"
/standard_name="RH92754"
/db_xref="UniSTS:83730"
variation 3509
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:375907512"
variation 3609
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:2304852"
variation 3627
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:60710875"
variation 3640..3641
/gene="CCDC40"
/gene_synonym="CILD15"
/replace=""
/replace="a"
/db_xref="dbSNP:377698650"
variation 3646
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:2304851"
variation 3683
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:143626985"
variation 3725
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:74000393"
variation 3729
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="c"
/db_xref="dbSNP:4889816"
variation 3843
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:114892048"
variation 3963
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:183678207"
STS 4029..4190
/gene="CCDC40"
/gene_synonym="CILD15"
/standard_name="RH98689"
/db_xref="UniSTS:88075"
variation 4092
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="a"
/replace="g"
/db_xref="dbSNP:369325014"
variation 4093
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="g"
/db_xref="dbSNP:117359231"
variation 4114
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:2289538"
variation 4166
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="c"
/replace="t"
/db_xref="dbSNP:373188258"
variation 4205
/gene="CCDC40"
/gene_synonym="CILD15"
/replace="g"
/replace="t"
/db_xref="dbSNP:147975107"
polyA_signal 4269..4274
/gene="CCDC40"
/gene_synonym="CILD15"
polyA_site 4298
/gene="CCDC40"
/gene_synonym="CILD15"
ORIGIN
ggatgttgacagcgtcgcctagcaacgggaaatggcggaaccgggcggcgcggcgggccggtcccatccggaagatggatcggcttctgagggagagaaggaagggaataatgaaagccacatggtgtcaccaccagagaaggatgatggccagaaaggtgaagaagctgtcggtagcacagagcatcctgaggaagtcacaacccaagcggaagctgcaattgaagagggggaggtggagacagaaggggaagcagcagtggaaggggaagaggaggctgtgtcctatggagatgctgaaagcgaagaggaatattactatacagaaacttcatccccggaagggcaaatcagtgctgcagatacgacttacccgtatttcagtcctcctcaggaactgcctggagaggaggcatacgatagtgttagcggggaggctggtctccaaggcttccagcaagaggccaccggtccaccagaatccagagaaaggagggtcacctccccagagccatcccacggagtcttaggcccgtcggagcaaatgggccaggtcacctctgggccagcagtgggcagattgacaggatccacagaggagccccaggggcaggtgctcccaatgggcgtccagcaccgcttccggctgagccacgggagcgacatcgagtcctcagacctggaggagttcgtctcgcaggagccagtgatccccccaggggtgcccgatgcccaccccagggaaggagacctgccagtgttccaggaccagatccagcagcccagcaccgaggagggggccatggcagagagagtggagtccgaggggagtgacgaggaagcagaagacgaagggtcccagctggtggttttggacccagaccaccccctgatggtaagattccaggctgccctgaagaactacctgaaccgacagatcgaaaagttgaagctggacctccaagagctggttgtggctaccaagcagagccgagcccagcggcaggagctgggggtgaatctctatgaggtgcagcagcacctggtacacctgcagaagctgctggagaagagtcacgaccgccacgcaatggcctcgagcgagcgcaggcagaaggaggaggagctgcaggccgcccgcgctctctacaccaagacctgcgcagccgccaacgaggagcgcaaaaagttggcggctctgcagactgagatggagaacttggccctgcatctcttctacatgcagaacatcgaccaggacatgcgtgacgacatccgcgtgatgacacaagtggtaaagaaggccgagacggagaggatccgggcagaaatcgagaagaaaaagcaggacctgtatgtggaccagctcaccactcgagcccagcaactggaagaagacattgccctgtttgaggctcagtacttggcccaagctgaggacacccggattttaaggaaagcagtgagtgaggcctgcaccgagatcgacgccatcagcgtggagaagaggcgcatcatgcagcaatgggccagcagcctggtgggcatgaagcaccgcgacgaggcgcacagggcggtgctggaggcgctcagaggatgccagcatcaagccaaatccaccgacggcgagattgaggcctataagaaatccatcatgaaggaggaagaaaagaacgagaagctggcgagcatcctgaaccggacagagacggaagccacactgctgcagaagctcaccacccagtgcctgaccaagcaggtggccctgcagagccagttcaatacctacaggctcaccctgcaggacacagaggatgccctcagccaggaccagctggaacaaatgatactcacggaggagttgcaggccatccgccaagccatccagggcgagctggagctcaggaggaagacggatgctgccatccgggagaagctgcaggagcacatgacctccaacaagaccaccaaatacttcaaccagctcatcctgaggctgcagaaggagaagaccaacatgatgacacatctttccaaaatcaacggtgacattgcccagaccaccctggacatcacacacaccagcagcaggctggacgcacaccagaagaccctggtggagctggaccaggacgtgaagaaagtcaacgagctcatcaccaacagccagagcgagatctcccggcgcacgatcctgatcgagaggaagcaagggctcatcaacttcctcaacaagcagctggagcggatggtctccgagctggggggggaagaagtggggcccctggagcttgaaatcaaaaggctgagcaagctgatcgacgagcacgatggcaaggcggtccaggcccaggtgacctggctgcgcctgcagcaggagatggtcaaggtgacacaggagcaggaggagcagctggcctccctggacgcatccaagaaggagctccacatcatggagcagaagaaactacgagtagaaagcaagattgagcaggagaagaaggagcagaaggagatcgagcaccacatgaaggacctggacaacgacctgaagaagctcaacatgttgatgaataaaaaccggtgcagctcggaggagctggagcagaacaaccgggtgacagagaatgagttcgtgcgctcgctgaaggcctctgagagggagaccatcaagatgcaggacaagctgaaccagctcagcgaggagaaggcgaccctcctgaatcaactggtggaagcagaacaccagattatgctttgggagaaaaaaatccaactggcaaaagagatgcgttcctcagtggattccgagatcggccagacggagatccgggccatgaagggcgagatccacaggatgaaggtcaggctcgggcagctgctgaagcagcaggagaagatgatccgtgccatggagttggcggttgcccgcagagagaccgtcaccacccaggccgaggggcagcgcaagatggacaggaaggcgctcacccgcaccgacttccaccacaagcagcttgagctgcgccggaaaatcagggacgttcgcaaggccaccgatgagtgcaccaaaaccgtcctggaactggaagaaacacaaagaaatgtgagcagctccctcctagagaagcaggaaaagctgtcggtgattcaggcagacttcgacacactcgaggccgacctcacccggcttggggccctcaaacgacagaacctttcagagatcgtggccctgcagacacgccttaagcacctgcaggctgtgaaggaggggcgctacgtgttcctgttccgctccaagcagtccctagtgctggagcgccagcgcctggacaagcgactggctctcatcgccaccatcctggaccgcgtgcgggacgagtacccccagttccaggaggccctgcacaaggtcagccagatgatcgccaacaagctcgagtcaccagggccctcctagggagcagcctggactccgccttgcaaggcctccaggaagagatccggaattgtgtttgtcatgagggacttggaatcttttgtgttcctaaaaaccacatgtaccctcagaagggcatcgtttaagagaaataagccagccccacccataggaatctttttagccactcagcaatttaataaaccaggtaaaatcctagcgtttcccatggcatcccatcgcaaagacagagcctgtgactgcagacccacacacccacactcccacactgggcttactcgtccaggtaacactttggtttgcagcactcccaaatctgcacgtgcctctcacaacacaacgctgccacaggtccacaagctggtgggctgagcagaggtgggaaagttaaggcagctccagccagcctggcccgggaggctggtccccccagcacttccctctactaggtgcatctgaaaacccacaaaccaccttctttaccagttttcccatccccaccccttagaactctcaggtcccttttcctgcccccatgtccccatttgagttaaattcagatccacagcttgcaggagaaagtcagtggccccagacacacgtaacagggtgagcactgaaataagagcacgctggggcgtccacaccaagggactacgccccagtctgcccacctatcttttctccatcattaacccagcgctctttctccctggacttccaagtaccaatgaccttggggcttctttgcagtttaaagggaaaatgctctacaaaataatttcactttcaaacatttcagcagaagaataaaatcttttttctgaatatctagtaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:55036 -> Molecular function: GO:0003674 [molecular_function] evidence: ND
GeneID:55036 -> Biological process: GO:0001947 [heart looping] evidence: IMP
GeneID:55036 -> Biological process: GO:0003351 [epithelial cilium movement] evidence: IMP
GeneID:55036 -> Biological process: GO:0003356 [regulation of cilium beat frequency] evidence: IMP
GeneID:55036 -> Biological process: GO:0030324 [lung development] evidence: IMP
GeneID:55036 -> Biological process: GO:0035469 [determination of pancreatic left/right asymmetry] evidence: IMP
GeneID:55036 -> Biological process: GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry] evidence: IMP
GeneID:55036 -> Biological process: GO:0070286 [axonemal dynein complex assembly] evidence: IMP
GeneID:55036 -> Biological process: GO:0071907 [determination of digestive tract left/right asymmetry] evidence: IMP
GeneID:55036 -> Biological process: GO:0071910 [determination of liver left/right asymmetry] evidence: IMP
GeneID:55036 -> Cellular component: GO:0005737 [cytoplasm] evidence: ISS
GeneID:55036 -> Cellular component: GO:0005929 [cilium] evidence: ISS
by
@meso_cacase at
DBCLS
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