2025-05-09 18:29:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001098501 5871 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens KIAA1217 (KIAA1217), transcript variant 3, mRNA. ACCESSION NM_001098501 VERSION NM_001098501.1 GI:148612856 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 5871) AUTHORS Kelempisioti,A., Eskola,P.J., Okuloff,A., Karjalainen,U., Takatalo,J., Daavittila,I., Niinimaki,J., Sequeiros,R.B., Tervonen,O., Solovieva,S., Kao,P.Y., Song,Y.Q., Cheung,K.M., Chan,D., Ala-Kokko,L., Jarvelin,M.R., Karppinen,J. and Mannikko,M. TITLE Genetic susceptibility of intervertebral disc degeneration among young Finnish adults JOURNAL BMC Med. Genet. 12, 153 (2011) PUBMED 22107760 REMARK GeneRIF: SKT is involved in the etiology of intervertebral disc degeneration among young adults. Publication Status: Online-Only REFERENCE 2 (bases 1 to 5871) AUTHORS Cirulli,E.T., Kasperaviciute,D., Attix,D.K., Need,A.C., Ge,D., Gibson,G. and Goldstein,D.B. TITLE Common genetic variation and performance on standardized cognitive tests JOURNAL Eur. J. Hum. Genet. 18 (7), 815-820 (2010) PUBMED 20125193 REMARK Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820] REFERENCE 3 (bases 1 to 5871) AUTHORS Eriksson,N., Macpherson,J.M., Tung,J.Y., Hon,L.S., Naughton,B., Saxonov,S., Avey,L., Wojcicki,A., Pe'er,I. and Mountain,J. TITLE Web-based, participant-driven studies yield novel genetic associations for common traits JOURNAL PLoS Genet. 6 (6), E1000993 (2010) PUBMED 20585627 REMARK Publication Status: Online-Only REFERENCE 4 (bases 1 to 5871) AUTHORS Karasugi,T., Semba,K., Hirose,Y., Kelempisioti,A., Nakajima,M., Miyake,A., Furuichi,T., Kawaguchi,Y., Mikami,Y., Chiba,K., Kamata,M., Ozaki,K., Takahashi,A., Makela,P., Karppinen,J., Kimura,T., Kubo,T., Toyama,Y., Yamamura,K., Mannikko,M., Mizuta,H. and Ikegawa,S. TITLE Association of the tag SNPs in the human SKT gene (KIAA1217) with lumbar disc herniation JOURNAL J. Bone Miner. Res. 24 (9), 1537-1543 (2009) PUBMED 19338451 REMARK GeneRIF: Using tag SNPs, we examined the association in two independent Japanese case-control populations and found a significant association of lumbar herniation with SKT rs16924573 in the allele frequency model GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator) COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK091142.1, BC018764.1, AB033043.2 and AL157473.1. Transcript Variant: This variant (3) represents the same 5' UTR and translation start site as found in variant 1, and lacks 4 in-frame exons resulting in a shorter isoform (3) compared to variant 1. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns ERS025081, ERS025083 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1553 AK091142.1 1-1553 1554-3283 BC018764.1 405-2134 3284-5081 AB033043.2 3555-5352 5082-5871 AL157473.1 2013-2802 FEATURES Location/Qualifiers source 1..5871 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10p12.31" gene 1..5871 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="KIAA1217" /db_xref="GeneID:56243" /db_xref="HGNC:25428" exon 1..473 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 18 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:115914593" variation 43 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368842544" variation 84 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:373020916" variation 99 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:11013966" variation 120 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:377019402" variation 130 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:370077625" variation 338 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:373254876" misc_feature 347..349 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="upstream in-frame stop codon" variation 351 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:146919272" variation 376 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:370926813" variation 390 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:7081709" CDS 404..4333 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="isoform 3 is encoded by transcript variant 3; sickle tail protein homolog; likely orthologue of Mus musculus enhancer trap locus 4" /codon_start=1 /product="sickle tail protein homolog isoform 3" /protein_id="NP_001091971.1" /db_xref="GI:148612857" /db_xref="GeneID:56243" /db_xref="HGNC:25428" /translation="
MEENESQKCEPCLPYSADRRQMQEQGKGNLHVTSPEDAECRRTKERLSNGNSRGSVSKSSRNIPRRHTLGGPRSSKEILGMQTSEMDRKREAFLEHLKQKYPHHASAIMGHQERLRDQTRSPKLSHSPQPPSLGDPVEHLSETSADSLEAMSEGDAPTPFSRGSRTRASLPVVRSTNQTKERSLGVLYLQYGDETKQLRMPNEITSADTIRALFVSAFPQQLTMKMLESPSVAIYIKDESRNVYYELNDVRNIQDRSLLKVYNKDPAHAFNHTPKTMNGDMRMQRELVYARGDGPGAPRPGSTAHPPHAIPNSPPSTPVPHSMPPSPSRIPYGGTRSMVVPGNATIPRDRISSLPVSRPISPSPSAILERRDVKPDEDMSGKNIAMYRNEGFYADPYLYHEGRMSIASSHGGHPLDVPDHIIAYHRTAIRSASAYCNPSMQAEMHMEQSLYRQKSRKYPDSHLPTLGSKTPPASPHRVSDLRMIDMHAHYNAHGPPHTMQPDRASPSRQAFKKEPGTLVYIEKPRSAAGLSSLVDLGPPLMEKQVFAYSTATIPKDRETSEKMMKTTANRNHTDSAGTPHVSGGKMLSALESTVPPSQPPPVGTSAIHMSLLEMRRSVAELRLQLQQMRQLQLQNQELLRAMMKKAELEISGKVMETMKRLEDPVQRQRVLVEQERQKYLHEEEKIVKKLCELEDFVEDLKKDSTAASRLVTLKDVEDGAFLLRQVGEAVATLKGEFPTLQNKMRAILRIEVEAVRFLKEEPHKLDSLLKRVRSMTDVLTMLRRHVTDGLLKGTDAAQAAQYMAMEKATAAEVLKSQEEAAHTSGQPFHSTGAPGDAKSEVVPLSGMMVRHAQSSPVVIQPSQHSVALLNPAQNLPHVASSPAVPQEATSTLQMSQAPQSPQIPMNGSAMQSLFIEEIHSVSAKNRAVSIEKAEKKWEEKRQNLDHYNGKEFEKLLEEAQANIMKSIPNLEMPPATGPLPRGDAPVDKVELSEDSPNSEQDLEKLGGKSPPPPPPPPRRSYLPGSGLTTTRSGDVVYTGRKENITAKASSEDAGPSPQTRATKYPAEEPASAWTPSPPPVTTSSSKDEEEEEEEGDKIMAELQGSSGAPQTSRMPVPMSAKNRPGTLDKPGKQSKLQDPRQYRQANGSAKKSGGDFKPTSPSLPASKIPALSPSSGKSSSLPSSSGDSSNLPNPPATKPSIASNPLSPQTGPPAHSASLIPSVSNGSLKFQSLTHTGKGHHLSFSPQSQNGRAPPPLSFSSSPPSPASSVSLNQGAKGTRTIHTPSLTSYKAQNGSSSKATPSTAKETS
" misc_feature 1580..1582 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" variation 407 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200465739" variation 435 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:141258919" variation 447 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:146963456" variation 450 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:144874255" variation 458 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201449304" exon 474..757 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 494 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149035347" variation 524 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143159540" variation 539 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61850390" variation 586 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:370399886" variation 588 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369092563" variation 616 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141733021" variation 620 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138853775" variation 621 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368575724" variation 665 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375559334" variation 705 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:184688700" variation 706 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199598086" variation 715 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149695072" exon 758..956 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 773 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139229716" variation 811 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369136857" variation 812 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371362476" variation 814 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:41277414" variation 832 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374656391" variation 835 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:144386656" variation 836 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369848932" variation 837 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:17506606" variation 877 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735611" variation 896 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200578654" variation 897 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374089576" variation 907 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200258540" variation 939 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735612" exon 957..1155 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 970 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:375617981" variation 972 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:144803126" variation 976 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368582978" variation 979 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:2274831" variation 1025 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199858264" variation 1089 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140101971" variation 1090 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145086883" variation 1099 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:189050004" variation 1103 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:151287223" variation 1107 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201441351" exon 1156..1249 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 1158 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735610" variation 1199 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:369280099" variation 1209 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371353600" variation 1210 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:376799240" exon 1250..2082 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 1270 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373606893" variation 1274 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377520061" variation 1277 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199962486" variation 1286 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:187735088" variation 1299 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:190815997" variation 1303 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200740349" variation 1328 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372241782" variation 1330 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368045521" variation 1344 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:200034563" variation 1348 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374292769" variation 1357 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735608" variation 1358 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150098666" variation 1384 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735605" variation 1402 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:140434196" variation 1409 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145583020" variation 1447 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:137982054" variation 1522 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374094403" variation 1558 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:3748215" variation 1561 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200596536" variation 1583 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:367992221" variation 1588 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:202177427" variation 1603 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374824948" variation 1611 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735607" variation 1646 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200156016" variation 1684 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146420784" variation 1685 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368870981" variation 1692 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:183074762" variation 1696 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377237223" variation 1703..1704 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /db_xref="dbSNP:34673532" variation 1704 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369727525" variation 1710 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:148124443" variation 1729 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:187749070" variation 1760 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:141833772" variation 1765 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369181477" variation 1779 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:150623045" variation 1792 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:140749126" variation 1834 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:199994518" variation 1843 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:201088499" variation 1853 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:139061769" variation 1864 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143282203" variation 1865 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147538283" variation 1879 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:140033141" variation 1882 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200219421" variation 1883 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150047311" variation 1886 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:150155237" variation 1920 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376020676" variation 1921 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370372414" variation 1924 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143945204" variation 1926 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:41279868" variation 1928 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:192669368" variation 1953 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201854162" variation 1965 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:142049110" variation 1976 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200559608" variation 1980 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:146656494" variation 1981 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140242367" variation 1982 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368075111" variation 1985 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735604" variation 1990 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370361325" variation 2012 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374367601" variation 2013..2014 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="g" /db_xref="dbSNP:34150424" variation 2053 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:3748216" variation 2055 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373514316" exon 2083..2132 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2125 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138994509" exon 2133..2299 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2133 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:377471847" variation 2137 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370224528" variation 2139 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:1112283" variation 2147 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:147534872" variation 2155 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147802497" variation 2160 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:116844906" variation 2162 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201894366" variation 2172 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368560397" variation 2181 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:141937477" variation 2194 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139693323" variation 2207 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150674204" variation 2218 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:1112284" variation 2220 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149683257" variation 2249 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368036126" variation 2250 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371750412" variation 2254 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735618" variation 2259 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199737801" variation 2260 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374935427" exon 2300..2475 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2302 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:139092631" variation 2304 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:187214051" variation 2323 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377532632" variation 2341 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735603" variation 2373 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146512884" variation 2382 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149120101" variation 2396 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:142233164" variation 2400 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374086604" variation 2403 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:367915878" variation 2410 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:151187216" variation 2411 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:367678595" variation 2426 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143221112" exon 2476..2606 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2515 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:191925449" variation 2571 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:202052622" variation 2581 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369025251" exon 2607..2754 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2636 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:140307613" variation 2651 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370575961" variation 2692 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:146466612" variation 2702 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147915268" variation 2715 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374750962" variation 2721 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141531788" variation 2732 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200602140" variation 2734 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199974260" variation 2751 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371753454" variation 2752 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201109038" exon 2755..3196 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2780 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201731110" variation 2785 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:2297329" variation 2788 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138527418" variation 2789 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149633076" variation 2791 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143401236" variation 2800 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:113571639" variation 2801 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141384251" variation 2822 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:202133714" variation 2830 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:2297328" variation 2834 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372971594" variation 2876 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:146210961" variation 2908 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139237078" variation 2909 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369719080" variation 2914 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199985849" variation 2915 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:368669714" variation 2920 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:111566927" variation 2930 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:61735619" variation 2938 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376327505" variation 2939 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:181535242" variation 2946 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145932195" variation 2956 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139472230" variation 2957 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:10828663" variation 2958 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:186237436" variation 2959 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145629946" variation 2965 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:148454163" variation 2972 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145265955" variation 2978 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:374825413" variation 2996 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:147898647" variation 3033 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200934666" variation 3035 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368934080" variation 3038 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:141672009" variation 3043 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:147067816" variation 3052 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376404979" variation 3053 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:151027148" variation 3070 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201497226" variation 3088 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145162894" variation 3096 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369589516" variation 3097 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150270635" variation 3103 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:185768873" variation 3147 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373566034" variation 3151 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:2297327" variation 3187 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:376523074" variation 3193 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138975274" variation 3194 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149399813" variation 3196 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200767034" exon 3197..3380 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3201 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200338973" variation 3225 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145827639" variation 3231 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375000847" variation 3243 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:138435732" variation 3256 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372268859" variation 3276 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:374904740" variation 3279 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:367810033" variation 3282 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:371222273" variation 3290 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:142423558" variation 3291 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:375496527" variation 3300 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369961556" variation 3305 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373172605" variation 3320 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:202053218" variation 3321 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376587403" variation 3322 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:145973323" variation 3359 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:148599992" exon 3381..3544 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3403 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141174320" variation 3409 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150795024" variation 3425 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:185964564" variation 3429 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199896296" variation 3444 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373887704" variation 3449 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:201801016" variation 3459 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:139217308" variation 3468 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735616" variation 3478 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377727051" variation 3492 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:370350477" variation 3517 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200882193" variation 3518 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145209815" variation 3538 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373098958" variation 3539 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371056850" exon 3545..3712 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3563 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200139959" variation 3615..3616 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="c" /db_xref="dbSNP:34064169" variation 3618 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:370754212" variation 3629 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201659593" variation 3636 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374052578" variation 3637 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200553530" variation 3645 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:367951182" variation 3650 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:201090723" variation 3665 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375788454" variation 3671..3673 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="gaa" /db_xref="dbSNP:140819336" variation 3682 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147607499" variation 3690 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:369880903" variation 3692 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:7092117" exon 3713..3835 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3723 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200980293" variation 3728 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146630453" variation 3735 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140195300" variation 3736 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149856867" variation 3751 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:145794379" variation 3775 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369765184" variation 3776 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:148983286" variation 3793 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368721321" exon 3836..5852 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3939 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143473670" variation 3969 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:201391907" variation 4002 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:141030064" variation 4021 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:139801243" variation 4037 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:201112367" variation 4043 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:147600735" variation 4046 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371424454" variation 4077 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141946586" variation 4087 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:78374720" variation 4127 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375951552" variation 4133 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200258057" STS 4139..4463 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="D10S1567" /db_xref="UniSTS:81236" variation 4140 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371035355" variation 4161 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145798344" STS 4170..4297 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="RH91497" /db_xref="UniSTS:89249" variation 4207 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:202049611" variation 4210 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138680991" variation 4211 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:201205458" variation 4213 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373527847" variation 4259 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201161499" variation 4262 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:199861086" variation 4279 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:991" variation 4290 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372157136" variation 4301 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:200494078" variation 4312 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375374487" variation 4474 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:192355620" variation 4497 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:41279870" variation 4576 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375576754" variation 4613 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:73604500" variation 4634 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:41279872" variation 4775 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:184939966" variation 4934 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:111565805" variation 5064 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61854204" variation 5065..5066 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /replace="tt" /db_xref="dbSNP:11411265" variation 5065 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200688465" variation 5066 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:80176474" variation 5066 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /db_xref="dbSNP:200540660" variation 5079..5081 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="ttt" /db_xref="dbSNP:71861405" variation 5081 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /replace="ttt" /db_xref="dbSNP:57326491" variation 5082 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201666868" variation 5139 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:3208993" variation 5216 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:189613179" STS 5337..5467 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="SHGC-17223" /db_xref="UniSTS:46636" variation 5354 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143135737" variation 5575 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:12248146" variation 5725 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:181584422" variation 5817 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:372571234" polyA_signal 5835..5840 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" polyA_site 5848 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" ORIGIN
agagcctcggtggtttgcagcagtggaaccaggcaggcccagttgtgggtaggagaggccgtcacctgttgaggcctcccccccacacccccgcatcgccctgccctggcagagcccagcccccagtccccggagagcgcgcctgaggacggacggacggacggacggacagacctagggacggagggccaggggcaggggagatccaagaggccccgcgctggaatgcagttttctcgggcgagggagactttgcaccggagtggaaaatagtttggggtggggtttcgcaccgtcccctcctccccagccccgggccccctcccaggcgctttctgggagcttttagaactgcgctctgaagtttccagagagcgaggagcttttgcggcaggcagagacaatggaagaaaatgaaagccagaaatgtgagccgtgccttccttactcagcagacagaagacagatgcaggaacaaggcaaaggcaatctgcatgtaacatcaccagaagatgcagaatgccgcagaaccaaggaacgcctttctaatggaaacagtcgtggttcagtttccaagtcttcccgcaatatcccaaggagacacaccctaggggggccccgaagttccaaggaaatactgggaatgcaaacatctgagatggatcggaagagagaagcgttcctagaacatctgaagcagaagtacccccaccacgcctctgcaatcatgggtcaccaagagaggctgagagaccagacaaggagccccaaactgtctcacagtcctcaaccacccagtctgggtgacccggtcgagcatttatcagagacgtccgctgattctttggaagccatgtctgagggggatgctccaacccctttttccagaggcagccggactcgtgcgagccttcctgtggtgaggtcaaccaaccagacgaaagaaagatctctgggggttctctatctccagtatggagatgaaaccaagcagctcaggatgccgaatgaaatcacaagtgcagacacaatccgtgctctcttcgtaagtgcctttccacagcagctcaccatgaaaatgctggaatcgcccagtgtcgccatttacatcaaagatgaaagcagaaatgtctattatgaattaaatgatgtaaggaacattcaagacagatcactcctcaaagtgtacaacaaggatcctgcacatgcgtttaatcacacaccaaaaactatgaatggagacatgaggatgcagagagaacttgtttatgcaagaggagatggccctggggcccctcgccccggatctactgctcatccaccccatgcgattccaaattccccaccgtctactccagtgccccattccatgcccccctccccgtccagaattccttatgggggcacccgctccatggttgttcctggcaatgccaccatccccagggacagaatctccagcctgccagtctccagacccatctctccaagcccaagcgccattttagaaagaagagatgtcaagcctgatgaagacatgagtggcaaaaacattgcaatgtacagaaatgagggtttctatgctgatccttacctttatcacgagggacggatgagcatagcctcatcccatggtggacacccactggatgtccccgaccacatcattgcatatcaccgcaccgccatccggtcagcgagtgcttattgtaacccctcaatgcaagcggaaatgcatatggaacaatcactgtacagacagaaatcaaggaaatatccggatagccatttgcctacactgggctccaaaacaccccctgcctctcctcacagagtcagtgacctgaggatgatagacatgcacgctcactataatgcccacggcccccctcacaccatgcagccagaccgggcctctccgagccgccaggcctttaaaaaggagccaggcaccttggtgtatatagaaaagccacggagcgctgcaggattatccagccttgtagacctcggccctcctctaatggagaagcaagtttttgcctacagcacggcgacaatacccaaagacagagagaccagcgagaaaatgatgaaaaccacagccaacaggaaccacacagatagtgcaggaacgccccatgtgtctggtgggaagatgctcagtgctctggagtccacggtgcctcccagccagcctccacctgtgggcacctcagccatccacatgagcctgcttgagatgaggcggagcgtggcggaactcaggctccagctccagcagatgcggcagctccagctgcagaaccaggagttgctgagggcaatgatgaagaaggccgagctggaaatcagtggcaaagtgatggaaacaatgaagagactggaggatcccgtgcagcgacagcgcgtcctagtggagcaagagagacaaaaatatcttcatgaggaagagaagatcgtcaagaagttgtgcgagttggaagactttgttgaagacttgaagaaggactccacggcagccagccgattggttactctgaaagacgtggaagacggggctttcctcctgcgtcaagtgggagaggctgtagctaccctgaaaggagaatttccaaccttacaaaacaagatgcgagccatcctgcgcatagaagtggaggccgtgcggtttctgaaggaggagccacacaagctggacagtctcctgaagcgtgtgcgcagcatgacagacgtcctgaccatgctgcggagacatgtcactgatgggctcctgaaaggcacggacgcagcccaagccgcacagtacatggctatggaaaaggccacagccgcagaagtcctgaagagtcaggaggaggcagcccacacctccggccagcccttccacagcacaggtgcccctggcgatgcgaagtcggaagtggtgcctttgtccggcatgatggttcgccacgcgcagagctcccctgtggtcatccagccctcccagcactccgtggccctgctgaaccctgctcagaacttgcctcacgtggccagctccccagccgtcccccaggaagcaacctccactctgcagatgtcgcaggctccgcagtccccacagatacccatgaatgggtctgccatgcagagcttgttcattgaagaaatccacagtgtgagtgccaagaacagggcagtgtctatcgagaaagcagaaaagaaatgggaggaaaaaaggcaaaatctggatcactataatgggaaagagtttgagaagctcctagaagaagctcaggccaatatcatgaagtcaataccaaatctggagatgccgccagccacaggcccactgccaaggggagatgccccagtggacaaggtggaactttcagaagattctccaaattcggaacaggacttggaaaagctggggggaaagtcgccccctcctcctccgccacctcctcgtcgaagctacctgccaggatcgggactcaccaccacgaggtcaggcgatgtggtctacaccggcagaaaggagaacatcaccgctaaggcaagcagtgaagatgctggaccaagcccacagaccagagctacaaaatatccagcagaggagcctgcttcagcctggaccccatccccaccgcctgtcaccacctcctcctcaaaggatgaggaggaagaagaagaagaaggagacaaaataatggcagaactccagggctccagcggggccccacagacgagcaggatgcctgtccccatgagtgccaagaacagacccggaaccctggacaaacccggcaagcagtccaaactgcaggatccccgccaatatcgtcaggctaatggaagtgctaagaaatctggtggggactttaagcctacttccccctccttacctgcttctaagattccagccctttctcccagctctgggaaaagcagttctctgccctcttctagtggtgacagctctaacctccctaatccacctgctactaaaccatcgattgcttctaaccctctcagcccccaaacaggaccacctgctcactctgcctccctcatcccttctgtctctaatggctctttgaagtttcagagcctcactcatacaggtaaaggtcaccatctttcattctcaccgcagagtcaaaatggccgagcaccccctcctttgtcattttcctcctcccctccttctcctgcctcctccgtctcactgaatcaaggtgccaagggcaccaggaccatccatactcccagcctcaccagctacaaggcacagaatggaagttcaagcaaagccaccccatccacagcaaaagaaacctcttaaaggtcaaatcctattaggcacaagtcggagttacatttaaaaaaaattaacagtctacaacaactgttttcacaagagaatgtaacatattgctgtatcgtttgaggcttaatgctaaatatgtgctaaatactggattaatagatttcagtaaagctcgttcgttttgtttggttttctttttacctagttgctatagtgtctacagtctatactcaatacctataaaatgcagtaagcatgtgttacagaaagaggttctggtgggagagaaaggtgcgtgtgagacaggagaattgtcttaagcatataaaacatgtatgattccagaattttagtatgttttgtataaaactatttttcattacggagactagaagtgaacagagaattacacaagtgtgactatacaaattgtaaaacagatactataatatttccttttattttagtgttatttagctttattacagatttctatttttgtcaaaacttcatggttcctttcaagatcttttttgccaaaacattttgatactatagcattgtacatttgaaagtagtgttctagactataaaaccaatgaacttctacatgagccctacagacaggcatgtgtagaaggcaatttatcaaacctattgcactgccatgaaaagtgtgtataataatttgctagcccaagcaagctagttttctttgcttgcttcttttctttcttttttccttccttttttttttttttttcttttttaacatgttgagattctctagttgttttctttggcgtatctaaccccttcttttgttttctgagacctggtaacccacgctcttgcattgtggattttaaaatgtatactctgtacggttctgtaaaccgaaaaacttttgtaaatatataaatatacatagacataaaaatactgtatgtgacagcacatagagtagttttcccacaccaaagttaatttttatgcatgctttaaaagtatatatcgggaccggcagaaatggaagtatccatacatttttaaaaagcaacaagtttgcacagctagagtgtttttgtaaataaatgtatttgtataacacagtcatgtaatatacagaactataagcagagactttgcaaaactaaataaagggctgcatgcttattattttttgtaccttgtcactataactacttcctagtcaaagaacgaaatgtaactgttaccgagttaaatgtttttccgctttgagggatgtaaccacatccactcagaggacactacttttctgaaagctctggggtgactaatgatgagttcctaataaattaattgcaagtgtggtgccttggatgtggcctgttggctcgctttcttctctgtggcttatcaaggtgtagatgacagaaagcaaacctggatacagagtttccaccctcagttcctggaggggctcttattattttctctctttttaaaaaacttccagtagaagtaaagtggaaataaaatgtctttatcaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:56243 -> Molecular function: GO:0003674 [molecular_function] evidence: ND GeneID:56243 -> Biological process: GO:0048706 [embryonic skeletal system development] evidence: ISS GeneID:56243 -> Cellular component: GO:0005737 [cytoplasm] evidence: ISS
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@meso_cacase at
DBCLS
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