2025-05-09 18:36:37, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001098500 6142 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens KIAA1217 (KIAA1217), transcript variant 2, mRNA. ACCESSION NM_001098500 VERSION NM_001098500.1 GI:148612812 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 6142) 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 6142) 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 6142) 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 6142) 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 AB033043.2, AK096446.1 and AL157473.1. Transcript Variant: This variant (2) represents the longest 5' UTR. Translation initiates at an internal AUG compared to variant 1. This variant lacks 3 in-frame exons near the C-terminal end of the coding region resulting in a shorter isoform (2) compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AB033043.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-1144 AB033043.2 1-1144 1145-2248 AK096446.1 367-1470 2249-5352 AB033043.2 2249-5352 5353-6142 AL157473.1 2013-2802 FEATURES Location/Qualifiers source 1..6142 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10p12.31" gene 1..6142 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="KIAA1217" /db_xref="GeneID:56243" /db_xref="HGNC:25428" exon 1..489 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 14 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375674010" variation 103 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:12772432" variation 260 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375293346" variation 374 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:149996615" exon 490..639 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 491 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:74124879" variation 506 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:370583171" variation 542 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:184753802" misc_feature 582..584 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="upstream in-frame stop codon" variation 622 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:78434707" exon 640..923 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 660 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149035347" variation 690 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143159540" variation 705 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61850390" variation 752 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:370399886" variation 754 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369092563" variation 782 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141733021" variation 786 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138853775" variation 787 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368575724" CDS 810..4604 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /note="isoform 2 is encoded by transcript variant 2; sickle tail protein homolog; likely orthologue of Mus musculus enhancer trap locus 4" /codon_start=1 /product="sickle tail protein homolog isoform 2" /protein_id="NP_001091970.1" /db_xref="GI:148612813" /db_xref="CCDS:CCDS41496.1" /db_xref="GeneID:56243" /db_xref="HGNC:25428" /translation="
MQTSEMDRKREAFLEHLKQKYPHHASAIMGHQERLRDQTRSPKLSHSPQPPSLGDPVEHLSETSADSLEAMSEGDAPTPFSRGSRTRASLPVVRSTNQTKERSLGVLYLQYGDETKQLRMPNEITSADTIRALFVSAFPQQLTMKMLESPSVAIYIKDESRNVYYELNDVRNIQDRSLLKVYNKDPAHAFNHTPKTMNGDMRMQRELVYARGDGPGAPRPGSTAHPPHAIPNSPPSTPVPHSMPPSPSRIPYGGTRSMVVPGNATIPRDRISSLPVSRPISPSPSAILERRDVKPDEDMSGKNIAMYRNEGFYADPYLYHEGRMSIASSHGGHPLDVPDHIIAYHRTAIRSASAYCNPSMQAEMHMEQSLYRQKSRKYPDSHLPTLGSKTPPASPHRVSDLRMIDMHAHYNAHGPPHTMQPDRASPSRQAFKKEPGTLVYIEKPRSAAGLSSLVDLGPPLMEKQVFAYSTATIPKDRETRERMQAMEKQIASLTGLVQSALFKGPITSYSKDASSEKMMKTTANRNHTDSAGTPHVSGGKMLSALESTVPPSQPPPVGTSAIHMSLLEMRRSVAELRLQLQQMRQLQLQNQELLRAMMKKAELEISGKVMETMKRLEDPVQRQRVLVEQERQKYLHEEEKIVKKLCELEDFVEDLKKDSTAASRLVTLKDVEDGAFLLRQVGEAVATLKGEFPTLQNKMRAILRIEVEAVRFLKEEPHKLDSLLKRVRSMTDVLTMLRRHVTDGLLKGTDAAQAAQYMAMEKATAAEVLKSQEEAAHTSGQPFHSTGAPGDAKSEVVPLSGMMVRHAQSSPVVIQPSQHSVALLNPAQNLPHVASSPAVPQEATSTLQMSQAPQSPQIPMNGSAMQSLFIEEIHSVSAKNRAVSIEKAEKKWEEKRQNLDHYNGKEFEKLLEEAQANIMKSIPNLEMPPATGPLPRGDAPVDKVELSEDSPNSEQDLEKLGGKSPPPPPPPPRRSYLPGSGLTTTRSGDVVYTGRKENITAKASSEDAGPSPQTRATKYPAEEPASAWTPSPPPVTTSSSKDEEEEEEEGDKIMAELQGSSGAPQTSRMPVPMSAKNRPGTLDKPGKQSKLQDPRQYRQANGSAKKSGGDFKPTSPSLPASKIPALSPSSGKSSSLPSSSGDSSNLPNPPATKPSIASNPLSPQTGPPAHSASLIPSVSNGSLKFQSLTHTGKGHHLSFSPQSQNGRAPPPLSFSSSPPSPASSVSLNQGAKGTRTIHTPSLTSYKAQNGSSSKATPSTAKETS
" misc_feature 1746..1748 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" variation 831 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375559334" variation 871 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:184688700" variation 872 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199598086" variation 881 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149695072" exon 924..1122 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 939 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139229716" variation 977 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369136857" variation 978 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371362476" variation 980 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:41277414" variation 998 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374656391" variation 1001 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:144386656" variation 1002 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369848932" variation 1003 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:17506606" variation 1043 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735611" variation 1062 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200578654" variation 1063 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374089576" variation 1073 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200258540" variation 1105 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735612" exon 1123..1321 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 1136 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:375617981" variation 1138 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:144803126" variation 1142 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368582978" variation 1145 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:2274831" variation 1191 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199858264" variation 1255 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140101971" variation 1256 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145086883" variation 1265 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:189050004" variation 1269 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:151287223" variation 1273 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201441351" exon 1322..1415 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 1324 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735610" variation 1365 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:369280099" variation 1375 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371353600" variation 1376 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:376799240" exon 1416..2248 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 1436 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373606893" variation 1440 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377520061" variation 1443 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199962486" variation 1452 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:187735088" variation 1465 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:190815997" variation 1469 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200740349" variation 1494 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372241782" variation 1496 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368045521" variation 1510 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:200034563" variation 1514 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374292769" variation 1523 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735608" variation 1524 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150098666" variation 1550 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735605" variation 1568 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:140434196" variation 1575 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145583020" variation 1613 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:137982054" variation 1688 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374094403" variation 1724 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:3748215" variation 1727 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200596536" variation 1749 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:367992221" variation 1754 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:202177427" variation 1769 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374824948" variation 1777 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735607" variation 1812 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200156016" variation 1850 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146420784" variation 1851 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368870981" variation 1858 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:183074762" variation 1862 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377237223" variation 1869..1870 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /db_xref="dbSNP:34673532" variation 1870 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369727525" variation 1876 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:148124443" variation 1895 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:187749070" variation 1926 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:141833772" variation 1931 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369181477" variation 1945 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:150623045" variation 1958 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:140749126" variation 2000 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:199994518" variation 2009 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:201088499" variation 2019 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:139061769" variation 2030 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143282203" variation 2031 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147538283" variation 2045 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:140033141" variation 2048 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200219421" variation 2049 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150047311" variation 2052 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:150155237" variation 2086 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376020676" variation 2087 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370372414" variation 2090 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:143945204" variation 2092 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:41279868" variation 2094 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:192669368" variation 2119 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201854162" variation 2131 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:142049110" variation 2142 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200559608" variation 2146 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:146656494" variation 2147 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140242367" variation 2148 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368075111" variation 2151 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:61735604" variation 2156 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370361325" variation 2178 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374367601" variation 2179..2180 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="g" /db_xref="dbSNP:34150424" variation 2219 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:3748216" variation 2221 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373514316" exon 2249..2353 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2256 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372982645" variation 2283 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:376125025" variation 2300 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:140999611" variation 2308 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:150149691" variation 2309 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:113780312" variation 2341 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:76503485" variation 2347 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:148941784" variation 2348 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143298890" exon 2354..2403 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2396 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138994509" exon 2404..2570 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2404 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:377471847" variation 2408 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370224528" variation 2410 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:1112283" variation 2418 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:147534872" variation 2426 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147802497" variation 2431 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:116844906" variation 2433 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201894366" variation 2443 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368560397" variation 2452 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:141937477" variation 2465 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139693323" variation 2478 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150674204" variation 2489 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:1112284" variation 2491 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:149683257" variation 2520 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368036126" variation 2521 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371750412" variation 2525 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735618" variation 2530 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199737801" variation 2531 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374935427" exon 2571..2746 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2573 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:139092631" variation 2575 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:187214051" variation 2594 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377532632" variation 2612 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735603" variation 2644 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146512884" variation 2653 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149120101" variation 2667 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:142233164" variation 2671 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374086604" variation 2674 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:367915878" variation 2681 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:151187216" variation 2682 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:367678595" variation 2697 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143221112" exon 2747..2877 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2786 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:191925449" variation 2842 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:202052622" variation 2852 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369025251" exon 2878..3025 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 2907 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:140307613" variation 2922 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:370575961" variation 2963 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:146466612" variation 2973 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147915268" variation 2986 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:374750962" variation 2992 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141531788" variation 3003 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200602140" variation 3005 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199974260" variation 3022 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371753454" variation 3023 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201109038" exon 3026..3467 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3051 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201731110" variation 3056 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:2297329" variation 3059 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138527418" variation 3060 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149633076" variation 3062 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143401236" variation 3071 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:113571639" variation 3072 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141384251" variation 3093 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:202133714" variation 3101 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:2297328" variation 3105 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372971594" variation 3147 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:146210961" variation 3179 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139237078" variation 3180 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:369719080" variation 3185 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:199985849" variation 3186 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:368669714" variation 3191 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:111566927" variation 3201 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:61735619" variation 3209 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376327505" variation 3210 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:181535242" variation 3217 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145932195" variation 3227 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:139472230" variation 3228 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:10828663" variation 3229 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:186237436" variation 3230 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145629946" variation 3236 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:148454163" variation 3243 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145265955" variation 3249 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:374825413" variation 3267 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:147898647" variation 3304 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200934666" variation 3306 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:368934080" variation 3309 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:141672009" variation 3314 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:147067816" variation 3323 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376404979" variation 3324 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:151027148" variation 3341 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201497226" variation 3359 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145162894" variation 3367 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369589516" variation 3368 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150270635" variation 3374 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:185768873" variation 3418 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373566034" variation 3422 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:2297327" variation 3458 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:376523074" variation 3464 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138975274" variation 3465 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149399813" variation 3467 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:200767034" exon 3468..3651 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3472 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200338973" variation 3496 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145827639" variation 3502 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375000847" variation 3514 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:138435732" variation 3527 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372268859" variation 3547 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:374904740" variation 3550 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:367810033" variation 3553 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:371222273" variation 3561 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:142423558" variation 3562 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:375496527" variation 3571 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369961556" variation 3576 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373172605" variation 3591 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:202053218" variation 3592 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:376587403" variation 3593 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:145973323" variation 3630 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:148599992" exon 3652..3815 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3674 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141174320" variation 3680 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:150795024" variation 3696 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:185964564" variation 3700 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:199896296" variation 3715 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373887704" variation 3720 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:201801016" variation 3730 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:139217308" variation 3739 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61735616" variation 3749 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:377727051" variation 3763 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:370350477" variation 3788 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200882193" variation 3789 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:145209815" variation 3809 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373098958" variation 3810 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:371056850" exon 3816..3983 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3834 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200139959" variation 3886..3887 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="c" /db_xref="dbSNP:34064169" variation 3889 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:370754212" variation 3900 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201659593" variation 3907 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:374052578" variation 3908 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200553530" variation 3916 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:367951182" variation 3921 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:201090723" variation 3936 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375788454" variation 3942..3944 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="gaa" /db_xref="dbSNP:140819336" variation 3953 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:147607499" variation 3961 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="t" /db_xref="dbSNP:369880903" variation 3963 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:7092117" exon 3984..4106 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 3994 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:200980293" variation 3999 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:146630453" variation 4006 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:140195300" variation 4007 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:149856867" variation 4022 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:145794379" variation 4046 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:369765184" variation 4047 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:148983286" variation 4064 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:368721321" exon 4107..6123 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /inference="alignment:Splign:1.39.8" variation 4210 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143473670" variation 4240 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:201391907" variation 4273 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:141030064" variation 4292 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:139801243" variation 4308 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:201112367" variation 4314 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:147600735" variation 4317 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371424454" variation 4348 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:141946586" variation 4358 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:78374720" variation 4398 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375951552" variation 4404 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200258057" STS 4410..4734 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="D10S1567" /db_xref="UniSTS:81236" variation 4411 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:371035355" variation 4432 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:145798344" STS 4441..4568 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="RH91497" /db_xref="UniSTS:89249" variation 4478 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="g" /db_xref="dbSNP:202049611" variation 4481 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:138680991" variation 4482 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:201205458" variation 4484 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:373527847" variation 4530 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:201161499" variation 4533 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="c" /db_xref="dbSNP:199861086" variation 4550 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:991" variation 4561 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:372157136" variation 4572 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:200494078" variation 4583 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:375374487" variation 4745 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:192355620" variation 4768 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:41279870" variation 4847 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:375576754" variation 4884 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:73604500" variation 4905 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:41279872" variation 5046 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:184939966" variation 5205 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:111565805" variation 5335 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:61854204" variation 5336..5337 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /replace="tt" /db_xref="dbSNP:11411265" variation 5336 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:200688465" variation 5337 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:80176474" variation 5337 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /db_xref="dbSNP:200540660" variation 5350..5352 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="ttt" /db_xref="dbSNP:71861405" variation 5352 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="" /replace="t" /replace="ttt" /db_xref="dbSNP:57326491" variation 5353 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:201666868" variation 5410 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:3208993" variation 5487 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:189613179" STS 5608..5738 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /standard_name="SHGC-17223" /db_xref="UniSTS:46636" variation 5625 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:143135737" variation 5846 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="g" /replace="t" /db_xref="dbSNP:12248146" variation 5996 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="a" /replace="g" /db_xref="dbSNP:181584422" variation 6088 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" /replace="c" /replace="t" /db_xref="dbSNP:372571234" polyA_signal 6106..6111 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" polyA_site 6119 /gene="KIAA1217" /gene_synonym="RP11-324E23.1; SKT" ORIGIN
ggagagggctgcgcgcttctcgccaagcaagcgggaggcgcactggggccgccgccgttcccgcgctcctccctctcctctgcacccactgtcacgctacccgcccgcgggggagcctcgagagcctccaggtgaattgaaagtcgtttccgggggaggacggagagggtgctgcagtcctggcatgccctgaaactgcaagtcgggcagaaacgacccggcggaggagcagggcgcgcagcgccctgcgcagcatccccgggctgccagaagaggccaccactcggctggcagccgcgagcggcggccgaacctcggccccagactcgggcccccggcacgctcgcccgggagataccccttccccctcttgcgcatttcgcagctgcgctggtgtggggcatgagagcgaggtggctccaggtctccgcggagcagctgccagtgggagagcgaggagaggcgagggggcggcagcctcggcccgaaacggagatcctggggtcctaaatttgtggccgattgcactgtgtcctggagacggagtggaaccacagcccagagcccctgggaatcatccctgaaagactgcattacttctccatggagtcttcctcctcctgcttattttctttttggaacaaggcaaaggcaatctgcatgtaacatcaccagaagatgcagaatgccgcagaaccaaggaacgcctttctaatggaaacagtcgtggttcagtttccaagtcttcccgcaatatcccaaggagacacaccctaggggggccccgaagttccaaggaaatactgggaatgcaaacatctgagatggatcggaagagagaagcgttcctagaacatctgaagcagaagtacccccaccacgcctctgcaatcatgggtcaccaagagaggctgagagaccagacaaggagccccaaactgtctcacagtcctcaaccacccagtctgggtgacccggtcgagcatttatcagagacgtccgctgattctttggaagccatgtctgagggggatgctccaacccctttttccagaggcagccggactcgtgcgagccttcctgtggtgaggtcaaccaaccagacgaaagaaagatctctgggggttctctatctccagtatggagatgaaaccaagcagctcaggatgccgaatgaaatcacaagtgcagacacaatccgtgctctcttcgtaagtgcctttccacagcagctcaccatgaaaatgctggaatcgcccagtgtcgccatttacatcaaagatgaaagcagaaatgtctattatgaattaaatgatgtaaggaacattcaagacagatcactcctcaaagtgtacaacaaggatcctgcacatgcgtttaatcacacaccaaaaactatgaatggagacatgaggatgcagagagaacttgtttatgcaagaggagatggccctggggcccctcgccccggatctactgctcatccaccccatgcgattccaaattccccaccgtctactccagtgccccattccatgcccccctccccgtccagaattccttatgggggcacccgctccatggttgttcctggcaatgccaccatccccagggacagaatctccagcctgccagtctccagacccatctctccaagcccaagcgccattttagaaagaagagatgtcaagcctgatgaagacatgagtggcaaaaacattgcaatgtacagaaatgagggtttctatgctgatccttacctttatcacgagggacggatgagcatagcctcatcccatggtggacacccactggatgtccccgaccacatcattgcatatcaccgcaccgccatccggtcagcgagtgcttattgtaacccctcaatgcaagcggaaatgcatatggaacaatcactgtacagacagaaatcaaggaaatatccggatagccatttgcctacactgggctccaaaacaccccctgcctctcctcacagagtcagtgacctgaggatgatagacatgcacgctcactataatgcccacggcccccctcacaccatgcagccagaccgggcctctccgagccgccaggcctttaaaaaggagccaggcaccttggtgtatatagaaaagccacggagcgctgcaggattatccagccttgtagacctcggccctcctctaatggagaagcaagtttttgcctacagcacggcgacaatacccaaagacagagagaccagagagaggatgcaagccatggagaaacagattgccagtttaactggccttgttcagtctgcgctttttaaagggcccattacaagttatagcaaagatgcgtctagcgagaaaatgatgaaaaccacagccaacaggaaccacacagatagtgcaggaacgccccatgtgtctggtgggaagatgctcagtgctctggagtccacggtgcctcccagccagcctccacctgtgggcacctcagccatccacatgagcctgcttgagatgaggcggagcgtggcggaactcaggctccagctccagcagatgcggcagctccagctgcagaaccaggagttgctgagggcaatgatgaagaaggccgagctggaaatcagtggcaaagtgatggaaacaatgaagagactggaggatcccgtgcagcgacagcgcgtcctagtggagcaagagagacaaaaatatcttcatgaggaagagaagatcgtcaagaagttgtgcgagttggaagactttgttgaagacttgaagaaggactccacggcagccagccgattggttactctgaaagacgtggaagacggggctttcctcctgcgtcaagtgggagaggctgtagctaccctgaaaggagaatttccaaccttacaaaacaagatgcgagccatcctgcgcatagaagtggaggccgtgcggtttctgaaggaggagccacacaagctggacagtctcctgaagcgtgtgcgcagcatgacagacgtcctgaccatgctgcggagacatgtcactgatgggctcctgaaaggcacggacgcagcccaagccgcacagtacatggctatggaaaaggccacagccgcagaagtcctgaagagtcaggaggaggcagcccacacctccggccagcccttccacagcacaggtgcccctggcgatgcgaagtcggaagtggtgcctttgtccggcatgatggttcgccacgcgcagagctcccctgtggtcatccagccctcccagcactccgtggccctgctgaaccctgctcagaacttgcctcacgtggccagctccccagccgtcccccaggaagcaacctccactctgcagatgtcgcaggctccgcagtccccacagatacccatgaatgggtctgccatgcagagcttgttcattgaagaaatccacagtgtgagtgccaagaacagggcagtgtctatcgagaaagcagaaaagaaatgggaggaaaaaaggcaaaatctggatcactataatgggaaagagtttgagaagctcctagaagaagctcaggccaatatcatgaagtcaataccaaatctggagatgccgccagccacaggcccactgccaaggggagatgccccagtggacaaggtggaactttcagaagattctccaaattcggaacaggacttggaaaagctggggggaaagtcgccccctcctcctccgccacctcctcgtcgaagctacctgccaggatcgggactcaccaccacgaggtcaggcgatgtggtctacaccggcagaaaggagaacatcaccgctaaggcaagcagtgaagatgctggaccaagcccacagaccagagctacaaaatatccagcagaggagcctgcttcagcctggaccccatccccaccgcctgtcaccacctcctcctcaaaggatgaggaggaagaagaagaagaaggagacaaaataatggcagaactccagggctccagcggggccccacagacgagcaggatgcctgtccccatgagtgccaagaacagacccggaaccctggacaaacccggcaagcagtccaaactgcaggatccccgccaatatcgtcaggctaatggaagtgctaagaaatctggtggggactttaagcctacttccccctccttacctgcttctaagattccagccctttctcccagctctgggaaaagcagttctctgccctcttctagtggtgacagctctaacctccctaatccacctgctactaaaccatcgattgcttctaaccctctcagcccccaaacaggaccacctgctcactctgcctccctcatcccttctgtctctaatggctctttgaagtttcagagcctcactcatacaggtaaaggtcaccatctttcattctcaccgcagagtcaaaatggccgagcaccccctcctttgtcattttcctcctcccctccttctcctgcctcctccgtctcactgaatcaaggtgccaagggcaccaggaccatccatactcccagcctcaccagctacaaggcacagaatggaagttcaagcaaagccaccccatccacagcaaaagaaacctcttaaaggtcaaatcctattaggcacaagtcggagttacatttaaaaaaaattaacagtctacaacaactgttttcacaagagaatgtaacatattgctgtatcgtttgaggcttaatgctaaatatgtgctaaatactggattaatagatttcagtaaagctcgttcgttttgtttggttttctttttacctagttgctatagtgtctacagtctatactcaatacctataaaatgcagtaagcatgtgttacagaaagaggttctggtgggagagaaaggtgcgtgtgagacaggagaattgtcttaagcatataaaacatgtatgattccagaattttagtatgttttgtataaaactatttttcattacggagactagaagtgaacagagaattacacaagtgtgactatacaaattgtaaaacagatactataatatttccttttattttagtgttatttagctttattacagatttctatttttgtcaaaacttcatggttcctttcaagatcttttttgccaaaacattttgatactatagcattgtacatttgaaagtagtgttctagactataaaaccaatgaacttctacatgagccctacagacaggcatgtgtagaaggcaatttatcaaacctattgcactgccatgaaaagtgtgtataataatttgctagcccaagcaagctagttttctttgcttgcttcttttctttcttttttccttccttttttttttttttttcttttttaacatgttgagattctctagttgttttctttggcgtatctaaccccttcttttgttttctgagacctggtaacccacgctcttgcattgtggattttaaaatgtatactctgtacggttctgtaaaccgaaaaacttttgtaaatatataaatatacatagacataaaaatactgtatgtgacagcacatagagtagttttcccacaccaaagttaatttttatgcatgctttaaaagtatatatcgggaccggcagaaatggaagtatccatacatttttaaaaagcaacaagtttgcacagctagagtgtttttgtaaataaatgtatttgtataacacagtcatgtaatatacagaactataagcagagactttgcaaaactaaataaagggctgcatgcttattattttttgtaccttgtcactataactacttcctagtcaaagaacgaaatgtaactgttaccgagttaaatgtttttccgctttgagggatgtaaccacatccactcagaggacactacttttctgaaagctctggggtgactaatgatgagttcctaataaattaattgcaagtgtggtgccttggatgtggcctgttggctcgctttcttctctgtggcttatcaaggtgtagatgacagaaagcaaacctggatacagagtttccaccctcagttcctggaggggctcttattattttctctctttttaaaaaacttccagtagaagtaaagtggaaataaaatgtctttatcaaaaaaaaaaaaaaaaaaaa
//
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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