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2024-04-20 20:25:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000451 3757 bp mRNA linear PRI 29-APR-2013 DEFINITION Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. ACCESSION NM_000451 VERSION NM_000451.3 GI:89257355 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 3757) AUTHORS Song,S.H., Balce,G.C., Agashe,M.V., Lee,H., Hong,S.J., Park,Y.E., Kim,S.G. and Song,H.R. TITLE New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia JOURNAL Am. J. Med. Genet. A 158A (10), 2456-2462 (2012) PUBMED 22903874 REMARK GeneRIF: The presence of SHOX mutations suggest genotypic-phenotypic overlap between hypochondroplasia and Leri-Weill dyschondrosteosis. REFERENCE 2 (bases 1 to 3757) AUTHORS Benito-Sanz,S., Royo,J.L., Barroso,E., Paumard-Hernandez,B., Barreda-Bonis,A.C., Liu,P., Gracia,R., Lupski,J.R., Campos-Barros,A., Gomez-Skarmeta,J.L. and Heath,K.E. TITLE Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer JOURNAL J. Med. Genet. 49 (7), 442-450 (2012) PUBMED 22791839 REMARK GeneRIF: The identified recurrent PAR1 deletion results in the loss of this previously unreported enhancer which we propose may decrease SHOX transcription, resulting in Leri-Weill dyschondrosteosis or idiopathic short stature due to SHOX haploinsufficiency. REFERENCE 3 (bases 1 to 3757) AUTHORS Rappold,G.A., Durand,C., Decker,E., Marchini,A. and Schneider,K.U. TITLE New roles of SHOX as regulator of target genes JOURNAL Pediatr Endocrinol Rev 9 (SUPPL 2), 733-738 (2012) PUBMED 22946287 REMARK GeneRIF: Employing microarray analyses and cell culture experiments, a strong effect of SHOX on the expression of the natriuretic peptide BNP and the fibroblast growth factor receptor gene FGFR3 could be demonstrated REFERENCE 4 (bases 1 to 3757) AUTHORS Danzig,J. and Levine,M.A. TITLE A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells JOURNAL J. Pediatr. Endocrinol. Metab. 25 (9-10), 889-895 (2012) PUBMED 23426818 REMARK GeneRIF: Mutant SHOX minigene generated only the smaller transcript REFERENCE 5 (bases 1 to 3757) AUTHORS Durand,C., Decker,E., Roeth,R., Schneider,K.U. and Rappold,G. TITLE The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures JOURNAL PLoS ONE 7 (9), E45369 (2012) PUBMED 23028966 REMARK GeneRIF: Data identified the homeodomain protein HOXA9 as a positive regulator of SHOX expression in U2OS cells. REFERENCE 6 (bases 1 to 3757) AUTHORS Rao,E., Weiss,B., Fukami,M., Rump,A., Niesler,B., Mertz,A., Muroya,K., Binder,G., Kirsch,S., Winkelmann,M., Nordsiek,G., Heinrich,U., Breuning,M.H., Ranke,M.B., Rosenthal,A., Ogata,T. and Rappold,G.A. TITLE Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome JOURNAL Nat. Genet. 16 (1), 54-63 (1997) PUBMED 9140395 REFERENCE 7 (bases 1 to 3757) AUTHORS Ogata,T., Yoshizawa,A., Muroya,K., Matsuo,N., Fukushima,Y., Rappold,G. and Yokoya,S. TITLE Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s) JOURNAL J. Med. Genet. 32 (10), 831-834 (1995) PUBMED 8558568 REFERENCE 8 (bases 1 to 3757) AUTHORS Kuznetzova,T., Baranov,A., Ivaschenko,T., Savitsky,G.A., Lanceva,O.E., Wang,M.R., Giollant,M., Malet,P., Kascheeva,T., Vakharlovsky,V. et al. TITLE X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies JOURNAL J. Med. Genet. 31 (8), 649-651 (1994) PUBMED 7815426 REFERENCE 9 (bases 1 to 3757) AUTHORS Ballabio,A., Bardoni,B., Carrozzo,R., Andria,G., Bick,D., Campbell,L., Hamel,B., Ferguson-Smith,M.A., Gimelli,G., Fraccaro,M. et al. TITLE Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 86 (24), 10001-10005 (1989) PUBMED 2602357 REFERENCE 10 (bases 1 to 3757) AUTHORS Zuffardi,O., Maraschio,P., Lo Curto,F., Muller,U., Giarola,A. and Perotti,L. TITLE The role of Yp in sex determination: new evidence from X/Y translocations JOURNAL Am. J. Med. Genet. 12 (2), 175-184 (1982) PUBMED 6954848 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX004827.19. This sequence is a reference standard in the RefSeqGene project. On Mar 8, 2006 this sequence version replaced gi:6031201. Summary: This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (SHOXa). Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: U89331.1, Y11536.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support ERS025081, ERS025084 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-259 BX004827.19 24828-25086 260-968 BX004827.19 30950-31658 969-1177 BX004827.19 35102-35310 1178-1235 BX004827.19 41305-41362 1236-1324 BX004827.19 41483-41571 1325-3757 BX004827.19 44875-47307 FEATURES Location/Qualifiers source 1..3757 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /chromosome="Y" /map="Xp22.33" /map="Yp11.3" gene 1..3757 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /note="short stature homeobox" /db_xref="GeneID:6473" /db_xref="HGNC:10853" /db_xref="HPRD:02430" /db_xref="MIM:312865" /db_xref="MIM:400020" exon 1..259 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /inference="alignment:Splign:1.39.8" variation 6 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="c" /replace="g" /db_xref="dbSNP:28475683" variation 12 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="g" /replace="t" /db_xref="dbSNP:3813940" variation 16 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="g" /db_xref="dbSNP:374378100" variation 43..44 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="t" /replace="tt" /db_xref="dbSNP:112273183" variation 44..45 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="ttg" /db_xref="dbSNP:200223988" variation 45..46 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="tg" /replace="ttg" /db_xref="dbSNP:68102883" variation 46..47 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="g" /db_xref="dbSNP:199946685" variation 47..48 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="gtt" /db_xref="dbSNP:72118607" variation 47 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="g" /replace="t" /db_xref="dbSNP:200022908" variation 55 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="t" /db_xref="dbSNP:72246778" variation 56..57 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="t" /db_xref="dbSNP:59633441" variation 56 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="" /replace="t" /db_xref="dbSNP:55872554" variation 180 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="c" /db_xref="dbSNP:113313554" variation 185 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="c" /replace="g" /db_xref="dbSNP:111549748" variation 187 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="c" /replace="t" /db_xref="dbSNP:185642798" variation 231 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="g" /db_xref="dbSNP:371510416" exon 260..968 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /inference="alignment:Splign:1.39.8" variation 278 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="c" /replace="t" /db_xref="dbSNP:182995615" variation 320 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="g" /db_xref="dbSNP:2239401" variation 379 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="g" /replace="t" /db_xref="dbSNP:187326087" variation 449 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="g" /db_xref="dbSNP:191787445" variation 554 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="g" /replace="t" /db_xref="dbSNP:375938368" misc_feature 602..604 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /note="upstream in-frame stop codon" variation 644 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="a" /replace="t" /db_xref="dbSNP:368712281" variation 673 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /replace="c" /replace="g" /db_xref="dbSNP:201157428" CDS 692..1570 /gene="SHOX" /gene_synonym="GCFX; PHOG; SHOXY; SS" /note="isoform SHOXa is encoded by transcript variant 1; growth control factor, X-linked; pseudoautosomal homeobox-containing osteogenic protein" /codon_start=1 /product="short stature homeobox protein isoform SHOXa" /protein_id="NP_000442.1" /db_xref="GI:4506943" /db_xref="CCDS:CCDS14107.1" /db_xref="GeneID:6473" /db_xref="HGNC:10853" /db_xref="HPRD:02430" /db_xref="MIM:312865" /db_xref="MIM:400020" /translation="
MEELTAFVSKSFDQKSKDGNGGGGGGGGKKDSITYREVLESGLARSRELGTSDSSLQDITEGGGHCPVHLFKDHVDNDKEKLKEFGTARVAEGIYECKEKREDVKSEDEDGQTKLKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLSEARVQVWFQNRRAKCRKQENQMHKGVILGTANHLDACRVAPYVNMGALRMPFQQVQAQLQLEGVAHAHPHLHPHLAAHAPYLMFPPPPFGLPIASLAESASAAAVVAAAAKSNSKNSSIADLRLKARKHAEALGL
"
misc_feature 1007..1009
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:00277"
misc_feature 1043..1219
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/note="Homeodomain; DNA binding domains involved in the
transcriptional regulation of key eukaryotic developmental
processes; may bind to DNA as monomers or as homo- and/or
heterodimers, in a sequence-specific manner; Region:
homeodomain; cd00086"
/db_xref="CDD:28970"
misc_feature order(1043..1057,1061..1063,1112..1114,1130..1132,
1169..1171,1175..1180,1187..1192,1196..1204,1208..1213)
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:28970"
misc_feature order(1049..1051,1058..1060,1178..1180,1187..1192,
1199..1201)
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/note="specific DNA base contacts [nucleotide binding];
other site"
/db_xref="CDD:28970"
misc_feature 1415..1438
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15266.1);
Region: SH3-binding (Potential)"
misc_feature 1511..1552
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (O15266.1);
Region: OAR"
variation 727
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376369288"
variation 745
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368409954"
variation 754
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142306835"
variation 777
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:146304983"
variation 787
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:374590634"
variation 811
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139059497"
variation 814
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140473647"
variation 830..831
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="g"
/db_xref="dbSNP:35183803"
variation 861
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150426690"
variation 878
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:138243769"
variation 881
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:371578837"
variation 890
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200663078"
variation 902
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375027970"
variation 952
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:368925113"
exon 969..1177
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/inference="alignment:Splign:1.39.8"
variation 970
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="g"
/replace="t"
/db_xref="dbSNP:193922465"
variation 995
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="g"
/replace="t"
/db_xref="dbSNP:137852558"
variation 1008
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:199774904"
variation 1016
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:202119896"
variation 1031
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200593538"
variation 1038
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922466"
variation 1054
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:149609259"
variation 1084
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374188319"
variation 1085
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:137852554"
variation 1091
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:193922467"
variation 1096
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1063806"
variation 1102
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:367787242"
variation 1117
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:143360725"
variation 1138
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371433978"
variation 1149
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="g"
/replace="t"
/db_xref="dbSNP:137852555"
exon 1178..1235
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/inference="alignment:Splign:1.39.8"
variation 1193
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:137852557"
variation 1195
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367892499"
variation 1208
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:137852556"
variation 1224..1225
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="t"
/db_xref="dbSNP:35974286"
variation 1229
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371772960"
variation 1234
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:202144835"
exon 1236..1324
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/inference="alignment:Splign:1.39.8"
variation 1237
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138998412"
variation 1267
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200088460"
variation 1268
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:376330042"
variation 1274
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:137852552"
variation 1275
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:188370909"
variation 1288
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:137852553"
variation 1289
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371048081"
exon 1325..3757
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/inference="alignment:Splign:1.39.8"
variation 1418
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374024890"
variation 1568
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:137852559"
variation 1604
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:370621168"
variation 1641
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375374324"
variation 1656..1657
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="c"
/db_xref="dbSNP:34597303"
variation 1694..1695
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="c"
/db_xref="dbSNP:35368282"
variation 1728
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:376784254"
variation 1747
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:181472527"
variation 1748
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:186114414"
variation 1822
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:191075100"
variation 1854..1855
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="ag"
/db_xref="dbSNP:375574678"
variation 1855..1856
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="ag"
/db_xref="dbSNP:369390009"
variation 1883
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:183343658"
variation 1894
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:185857936"
variation 1905
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145195781"
variation 1996
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149127363"
variation 2072
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:377561273"
variation 2155
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:191201624"
variation 2164
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="c"
/db_xref="dbSNP:143310175"
variation 2315
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373739141"
variation 2324
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="t"
/db_xref="dbSNP:73607276"
variation 2349
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="tttttttttttt"
/db_xref="dbSNP:71660280"
variation 2489
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="a"
/db_xref="dbSNP:200764444"
variation 2524
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:35507574"
variation 2544
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183196814"
variation 2554
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:145776742"
variation 2598
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373715225"
variation 2669
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:187560973"
variation 2721
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="g"
/replace="t"
/db_xref="dbSNP:192502886"
variation 2727
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="g"
/replace="t"
/db_xref="dbSNP:138395282"
variation 2765
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:182779829"
variation 2807
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:187431074"
variation 2811
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142012002"
variation 2842
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150682919"
variation 2869
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:192656237"
STS 2872..2974
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
variation 2891
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:184999202"
variation 2917
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:137953086"
STS 2934..3023
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
variation 2988
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:189162461"
variation 2991
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:192799164"
variation 3035
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:183833394"
variation 3049
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:149457161"
variation 3078
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368319597"
variation 3094
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:111719077"
variation 3133
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:189290967"
variation 3210
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:181993811"
variation 3220
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:185971755"
variation 3472..3473
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="a"
/db_xref="dbSNP:373237663"
variation 3473..3474
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="a"
/db_xref="dbSNP:11482355"
variation 3527
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="g"
/db_xref="dbSNP:111339776"
variation 3556
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144271137"
variation 3633
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:147410605"
variation 3647
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148442993"
variation 3670
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142700360"
variation 3713
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="c"
/replace="t"
/db_xref="dbSNP:28410756"
variation 3727..3728
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="t"
/db_xref="dbSNP:201606123"
variation 3730
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="t"
/db_xref="dbSNP:36064730"
variation 3739..3740
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace=""
/replace="agag"
/db_xref="dbSNP:373451277"
variation 3740
/gene="SHOX"
/gene_synonym="GCFX; PHOG; SHOXY; SS"
/replace="a"
/replace="g"
/db_xref="dbSNP:28505100"
ORIGIN
cgcctgcttttgcccgggtcctgagaacaggggctccccacactttttttttttttggttttgttttatttcgtttccgcgcgtctctttctactgcaaacagaaatgggagggtggacaggcgggtaggagcggatcagacgcccaggacgcagcagcccgagtccgcacagggtttgcgggaggtggtgaccgcgctggggacgccaggacgcgaatgaacctccggggcgcgctcggggcctgcgctcagagcttggaaaactggagtttgcttttcctccggccacggagagaacgcgggtaacctgtgtggggggctcgggcgcctgcgcccccctcctgcgcgcgcgctctcccttccaaaaatgggatctttcccccttcgcaccaaggtgtacggacgccaaacagtgatgaaatgagaagaaagccaattgccggcctggggggtgggggagacacagcgtctctgcgtgcgtccgccgcggagcccggagaccagtaattgcaccagacaggcagcgcatggggggctgggcgaggtcgccgcgtataaatagtgagatttccaatggaaaggcgtaaataacagcgctggtgatccacccgcgcgcacgggccgtcctctccgcgcggggagacgcgcgcatccaccagccccggctgctcgccagccccggccccagccatggaagagctcacggcttttgtatccaagtcttttgaccagaaaagcaaggacggtaacggcggaggcggaggcggcggaggtaagaaggattccattacgtaccgggaagttttggagagcggactggcgcgctcccgggagctggggacgtcggattccagcctccaggacatcacggagggcggcggccactgcccggtgcatttgttcaaggaccacgtagacaatgacaaggagaaactgaaagaattcggcaccgcgagagtggcagaagggatttatgaatgcaaagagaagcgcgaggacgtgaagtcggaggacgaggacgggcagaccaagctgaaacagaggcgcagccgcaccaacttcacgctggagcagctgaacgagctcgagcgactcttcgacgagacccattaccccgacgccttcatgcgcgaggagctcagccagcgcctggggctctccgaggcgcgcgtgcaggtttggttccagaaccggagagccaagtgccgcaaacaagagaatcagatgcataaaggcgtcatcttgggcacagccaaccacctagacgcctgccgagtggcaccctacgtcaacatgggagccttacggatgcctttccaacaggtccaggctcagctgcagctggaaggcgtggcccacgcgcacccgcacctgcacccgcacctggcggcgcacgcgccctacctgatgttccccccgccgcccttcgggctgcccatcgcgtcgctggccgagtccgcctcggccgccgccgtggtcgccgccgccgccaaaagcaacagcaagaattccagcatcgccgacctgcggctcaaggcgcggaagcacgcggaggccctggggctctgacccgccgcgcagccccccgcgcgcccggactcccgggctccgcgcaccccgcctgcaccgcgcgtcctgcactcaaccccgcctggagctccttccgcggccaccgtgctccgggcaccccgggagctcctgcaagaggcctgaggagggaggctcccgggaccgtccacgcacgacccagccagaccctcgcggagatggtgcagaaggcggagcgggtgagcggccgtgcgtccagcccgggcctctccaaggctgcccgtgcgtcctgggaccctggagaagggtaaacccccgcctggctgcgtcttcctctgctataccctatgcatgcggttaactacacacgtttggaagatccttagagtctattgaaactgcaaagatcccggagctggtctccgatgaaaatgccatttcttcgttgccaacgattttctttactaccatgctccttccttcatcccgagaggctgcggaacgggtgtggatttgaatgtggacttcggaatcccaggaggcaggggccgggctctcctccaccgctcccccggagcctcccaggcagcaataaggaaatagttctctggctgaggctgaggacgtgaaccgcgggctttggaaagggaggggagggagacccgaacctcccacgttgggactcccacgttccggggacctgaatgaggaccgactttataacttttccagtgtttgattcccaaattgggtctggttttgttttggattggtatttttttttttttttttttttttttttttttttgctgtgttacaggattcagacgcaaaagacttgcataagagacggacgcgtggttgcaaggtgtcatactgatatgcagcattaactttactgacatggagtgaagtgcaatattataaatattatagattaaaaaaaaaatagccgtgcactcttgaccccgtcagcgtccaacgtggaaaaggcgttacctcttctcccagcgctggccgcctggccactgagggccctttgcaaaaatcacgggtgtagagatggccctgggcgcgctgggagtgtggttgtgtttctgaaggggataaaagagggcacggtggtgccaagatatcagtttggtacctgagctgtttctggttgggaagcgtaaaagccagggagagatccagagagttttcaagtttttgcagatgtaggtggttccagcttttctttctcccctactccatcttctgcgttcccccagttcttttatttctttgttttttatttttgagacagagacttgctttgtcgcccaggctggagtgcagtggcgcaatgtcagctcactgccacctccgcctcccgggttcaagcgatgctcctgcctcagcctcccgagtagctgggactacaggcacctgccaccacccccggctaattttttgtatttatagtagagacggggtttcaccgtgttggccaggctcgtctcgaactcctgacctcaggtgatctgcccgcctcggcctcccaacgtgcccccagttttataaacagcagatagcaacttgtcgtcacagctggcatgggctggacagttgcttgaaatgacctaaccaaaaacattcaagggttctgcccccagatttcgggagatccacgttccatgttctgattggttttctgggaacacagcaaggggtttggtgacctccgagaagatccatctgcatgattggcattagttaccacagcctgcccagagagaaactatcttctcccaacatttactaacatccactggtcaactctcttatttccataacacatttgcatctttctggattcaagcttggtggttttctttcctaacttctgatttagatacttctccctgaggtggggataaaagaaaaaaaaaaacaacttctttttttcttccgcataacactttctatcttgtcactgagctgaactgtagatccatttggacccgtctcatttgtatcttctgatattctttatacaaaccaaaagtccccttcaacattttttatgtcaaaatgttacaaccgctgtaaaatgacggagagagagagaaagaatcccagacattaacggtattagagagtttgcctcattcatccatttttcttaaaagctggaaattaaaaaaaaaaaagagagagagaggcttt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:6473 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA
GeneID:6473 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:6473 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:6473 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS
GeneID:6473 -> Biological process: GO:0006366 [transcription from RNA polymerase II promoter] evidence: TAS
GeneID:6473 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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