2024-04-26 20:55:48, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_138283 736 bp mRNA linear PRI 17-APR-2022 DEFINITION Homo sapiens cystatin like 1 (CSTL1), transcript variant 1, mRNA. ACCESSION NM_138283 VERSION NM_138283.1 KEYWORDS RefSeq; MANE Select. 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 736) AUTHORS Frygelius J, Arvestad L, Wedell A and Tohonen V. TITLE Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins JOURNAL Evol Dev 12 (3), 329-342 (2010) PUBMED 20565543 REFERENCE 2 (bases 1 to 736) AUTHORS Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S and Rogers J. TITLE The DNA sequence and comparative analysis of human chromosome 20 JOURNAL Nature 414 (6866), 865-871 (2001) PUBMED 11780052 REFERENCE 3 (bases 1 to 736) AUTHORS Brown WM and Dziegielewska KM. TITLE Friends and relations of the cystatin superfamily--new members and their evolution JOURNAL Protein Sci 6 (1), 5-12 (1997) PUBMED 9007972 REMARK Review article REFERENCE 4 (bases 1 to 736) AUTHORS Dickinson DP, Zhao Y, Thiesse M and Siciliano MJ. TITLE Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2 JOURNAL Genomics 24 (1), 172-175 (1994) PUBMED 7896273 REFERENCE 5 (bases 1 to 736) AUTHORS Thiesse M, Millar SJ and Dickinson DP. TITLE The human type 2 cystatin gene family consists of eight to nine members, with at least seven genes clustered at a single locus on human chromosome 20 JOURNAL DNA Cell Biol 13 (2), 97-116 (1994) PUBMED 8179826 REFERENCE 6 (bases 1 to 736) AUTHORS Dickinson DP, Thiesse M, Dempsey LD and Millar SJ. TITLE Genomic cloning, physical mapping, and expression of human type 2 cystatin genes JOURNAL Crit Rev Oral Biol Med 4 (3-4), 573-580 (1993) PUBMED 7690606 REFERENCE 7 (bases 1 to 736) AUTHORS Saitoh E, Isemura S, Sanada K, Kim HS, Smithies O and Maeda N. TITLE Cystatin superfamily. Evidence that family II cystatin genes are evolutionarily related to family III cystatin genes JOURNAL Biol Chem Hoppe Seyler 369 Suppl, 191-197 (1988) PUBMED 3202964 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY707749.1. Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located at the telomeric end of the cystatin locus and encodes a type 2 cystatin-like protein. The specific function of this protein has not been determined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY707749.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000347397.5/ ENSP00000344907.1 RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..736 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="20" /map="20p11.21" gene 1..736 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="cystatin like 1" /db_xref="GeneID:128817" /db_xref="HGNC:HGNC:15958" exon 1..122 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /inference="alignment:Splign:2.1.0" variation 2 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1465850170" variation 5 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986778470" variation 7 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1986778616" variation 9 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1986778690" variation 12 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1422253112" variation 13 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1364291950" variation 15 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:2123308459" variation 17 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986778905" variation 19 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1475918809" variation 22 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986779034" variation 24 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1986779111" variation 28 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1258794296" variation 34 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:775255342" variation 35 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:905628904" variation 38 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:545590194" variation 39 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:41306908" variation 41 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:192740314" variation 42 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986779694" variation 43 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1986779763" variation 44 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1216833129" variation 45 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1600271088" variation 46 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1342357042" variation 47..68 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="agcaaggagaacgtgtctgtaa" /replace="agcaaggagaacgtgtctgtaagcaaggagaacgtgtctgtaa" /db_xref="dbSNP:1279253653" variation 48 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1028578649" variation 50 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986780163" variation 55 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:954302986" variation 58 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:200158616" variation 59 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="g" /db_xref="dbSNP:1986780481" variation 59 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:983661569" variation 60 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="t" /replace="tt" /db_xref="dbSNP:556521780" variation 63 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1568634469" variation 64 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:987005790" variation 65 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:2123308585" variation 67 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986780785" variation 69 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1168103485" variation 77 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:184354923" variation 79 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1019781406" variation 84 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986781164" variation 87 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1986781225" variation 89 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:974923661" variation 92..93 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="gg" /db_xref="dbSNP:922019989" variation 94 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:966886901" variation 95..97 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="tt" /replace="ttt" /db_xref="dbSNP:1254485357" variation 99 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986781594" variation 100 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1180849209" variation 105 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:562355838" variation 113 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986782080" variation 116 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986782134" variation 122 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1273449310" exon 123..465 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /inference="alignment:Splign:2.1.0" variation 124 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986790244" variation 127 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986790310" variation 130 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986790384" variation 131 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1224900367" variation 133 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1600271281" variation 135 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1269387033" variation 136 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:938534622" variation 138 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:982081530" variation 139 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:45509795" variation 143 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986790819" variation 146 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:753108924" variation 147 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1260923479" variation 152 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1460461925" variation 155 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1205238667" variation 157 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1004531543" variation 158 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:576123378" variation 159 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1341416456" variation 164 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1445788028" variation 165 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1986791432" variation 166 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986791533" variation 171 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1450941866" variation 172..173 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="tgggtt" /db_xref="dbSNP:1402682162" variation 172 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:899406655" variation 173 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986791886" variation 174..180 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="tga" /replace="tgagtga" /db_xref="dbSNP:1192838691" variation 177 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="g" /db_xref="dbSNP:1986792071" variation 177 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1417535234" misc_feature 178..180 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="upstream in-frame stop codon" variation 178 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1164892906" variation 180..182 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="aac" /db_xref="dbSNP:1473111712" variation 180..181 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="aa" /db_xref="dbSNP:1986792174" variation 182 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986792374" variation 184 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1236854314" variation 187 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:920416125" variation 189 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:535421551" variation 196 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1436067007" variation 197 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986792957" variation 198 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1292081881" variation 200 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1370202482" variation 201 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1235649607" variation 203 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1986793317" variation 204 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:192471702" variation 209 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:756690642" variation 210 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1352302195" variation 211 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:780952032" variation 224 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1287580620" variation 225 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1447146267" variation 228 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:745786886" variation 229 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1244749472" variation 237 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1600271333" variation 238 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:769671920" variation 241 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:572734492" variation 242 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1237548147" variation 243 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:748865640" variation 246 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986794296" CDS 247..684 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /codon_start=1 /product="cystatin-like 1 precursor" /protein_id="NP_612140.1" /db_xref="CCDS:CCDS13153.1" /db_xref="GeneID:128817" /db_xref="HGNC:HGNC:15958" /translation="
MGIGCWRNPLLLLIALVLSAKLGHFQRWEGFQQKLMSKKNMNSTLNFFIQSYNNASNDTYLYRVQRLIRSQMQLTTGVEYIVTVKIGWTKCKRNDTSNSSCPLQSKKLRKSLICESLIYTMPWINYFQLWNNSCLEAEHVGRNLR"
sig_peptide 247..321 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /inference="COORDINATES: ab initio prediction:SignalP:4.0" mat_peptide 322..681 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /product="cystatin-like 1" misc_feature 379..648 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="Cystatin-like domain; Cystatins are a family of cysteine protease inhibitors that occur mainly as single domain proteins. However some extracellular proteins such as kininogen, His-rich glycoprotein and fetuin also contain these domains; Region: CY; cd00042" /db_xref="CDD:238002" misc_feature order(463..471,475..477) /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="putative proteinase inhibition site [active]" /db_xref="CDD:238002" variation 247 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:768234653" variation 249 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:760903708" variation 250 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:766732913" variation 255 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:551757716" variation 256 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:570240178" variation 260 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1284160642" variation 263..264 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="gg" /replace="ggg" /db_xref="dbSNP:146539766" variation 263 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986794937" variation 264 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1442160620" variation 265 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1600271358" variation 266 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1244160594" variation 267..269 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="aa" /replace="aaa" /db_xref="dbSNP:773459853" variation 269 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1600271367" variation 270 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:765909056" variation 271 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1449651989" variation 272 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:149138276" variation 273 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:764364354" variation 274..285 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="ctgctgctgctg" /replace="ctgctgctgctgctg" /db_xref="dbSNP:1325548736" variation 275 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1600271379" variation 277 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1986795955" variation 279 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986796038" variation 282 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986796098" variation 289 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1008530107" variation 290 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1568634671" variation 291 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1412893416" variation 292 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:751838579" variation 293 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:757462158" variation 294 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:781020112" variation 302 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1441298441" variation 308 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1986796876" variation 310 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:777984032" variation 312 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986797018" variation 315 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1456334421" variation 316 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:756043510" variation 324 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1233513239" variation 326 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:779975528" variation 327 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1177593776" variation 329 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1568634684" variation 330 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1600271413" variation 332 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="" /replace="a" /db_xref="dbSNP:1986797623" variation 332 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="aa" /db_xref="dbSNP:1986797575" variation 336 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986797708" variation 338 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1479483524" variation 341 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="aa" /db_xref="dbSNP:1274596759" variation 341 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:748742552" variation 349 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:143312132" variation 351 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:148321395" variation 352 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1291622753" variation 353 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:927243190" variation 354..364 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="ga" /replace="gagcaagaaga" /db_xref="dbSNP:1356291902" variation 355 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:773770316" variation 356 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1032543237" variation 358..365 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="aagaa" /replace="aagaagaa" /db_xref="dbSNP:1170328002" variation 363 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:369157186" variation 367 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:938487835" variation 368 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:565594790" variation 374 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:771676533" variation 375 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:2123309675" variation 377 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:777047334" variation 381 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1371402499" variation 383 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:759822593" variation 384 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:770367075" variation 386 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1281948792" variation 387 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1356934338" variation 390 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:776164095" variation 391 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1301209781" variation 396 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986798775" variation 398 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:564671302" variation 400 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:578121943" variation 401..407 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="acaa" /replace="acaacaa" /db_xref="dbSNP:1486982106" variation 401 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:140584733" variation 403 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986799141" variation 404 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1273681409" variation 406 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1441790913" variation 408 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:762085007" variation 410 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1239290184" variation 414 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:767702191" variation 417 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:372937280" variation 418 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:755920751" variation 419 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:145467954" variation 421 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:7361799" variation 422 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1402064440" variation 425 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:753739558" variation 428..432 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="t" /replace="tatat" /db_xref="dbSNP:1986800336" variation 429 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986800446" variation 431 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:16985357" variation 432 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1986800819" variation 433 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:778469768" variation 434 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:747678678" variation 441 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1220872327" variation 443 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:17757442" variation 444 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:777303751" variation 447 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1215426169" variation 448 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1315519522" variation 449..450 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="tt" /replace="ttt" /db_xref="dbSNP:34444749" variation 451 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:746184924" variation 452 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:770314191" variation 454 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1344133745" variation 456 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986802054" variation 458 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:559332493" variation 459 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1282542894" variation 461 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1486075971" exon 466..576 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /inference="alignment:Splign:2.1.0" variation 466 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1394959931" variation 468 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:752606126" variation 470 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:763490626" variation 471 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:529625349" variation 472 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:751174717" variation 473 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:138411204" variation 474 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:149240631" variation 475 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1235381670" variation 476 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1986901403" variation 477 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:144509788" variation 478 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:755324626" variation 479 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1986901577" variation 480 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:779438782" variation 482..501 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="ag" /replace="agtatatagtcactgtgaag" /db_xref="dbSNP:755153225" variation 483 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:748577800" variation 484 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986901990" variation 485 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1813985905" variation 486 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1600272878" variation 487 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1322590118" variation 494 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1005451830" variation 495 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:1195827601" variation 498 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986902546" variation 500 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:773274192" variation 501 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1473988799" variation 502 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1377929283" variation 503 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:139583699" variation 506 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:771083071" variation 507 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:776859470" variation 508 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:3746736" variation 509 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:147512873" variation 511 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:267605856" variation 513 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986903932" variation 514 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:751049935" variation 515 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1373766451" variation 516 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:756843230" variation 521 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:767233474" variation 522 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1986904630" variation 524 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986904715" variation 525 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:149551165" variation 527 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1217129518" variation 531 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986905054" variation 533 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:3746737" variation 534 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:779129617" variation 536 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1233178066" variation 537 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1012933829" variation 539 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:151114691" variation 542 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:758762503" variation 549..553 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="cccc" /replace="ccccc" /db_xref="dbSNP:1986906387" variation 549 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:778264319" variation 550 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:747041503" variation 551 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1733322203" variation 552 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:140956112" variation 555 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:12625959" variation 559 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1184520845" variation 560 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1421404431" variation 561 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1429033477" variation 564 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1175353162" variation 566 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:746055594" variation 568 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:2123315392" variation 573 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1436714746" variation 574 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:770113254" variation 576 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:200792247" exon 577..736 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /inference="alignment:Splign:2.1.0" variation 578 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1372063043" variation 579 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986929126" variation 583 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986929186" variation 584 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1221681404" variation 586 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1986929328" variation 588 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:200735623" variation 589 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:199762402" variation 591 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1255051600" variation 593 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986929537" variation 600 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1220504047" variation 603 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1271040336" variation 605 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /db_xref="dbSNP:1242537820" variation 608 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1264747535" variation 609 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:145690451" variation 615 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986930007" variation 616 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:142364630" variation 621 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:2123316522" variation 623 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1201787125" variation 627 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:267605857" variation 628 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1468704981" variation 635 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:764419474" variation 636 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1986930456" variation 637 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:751979070" variation 638 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986930590" variation 639 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:757757950" variation 640 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:768074484" variation 643 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986930779" variation 646 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986930836" variation 648 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:1323067289" variation 655 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1255890944" variation 657 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:750412994" variation 658 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:76182203" variation 661 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:749498277" variation 662 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986931134" variation 663 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986931295" variation 665 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:201842574" variation 666 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1355419829" variation 668 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:1331303229" variation 675 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1258352016" variation 676 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1412120122" variation 678 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986931966" variation 679 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:2123316636" variation 681 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:755304627" variation 682 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:778842413" variation 683 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986932274" variation 685 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:747958721" variation 687 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:772074065" variation 688 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:773220873" variation 692 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1291199369" variation 693 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1986932801" variation 694 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:746460704" variation 697 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:374708502" variation 699 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986933197" variation 700 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:759175789" variation 702 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:113992260" variation 706 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1206672621" variation 707..709 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="cac" /replace="cacac" /db_xref="dbSNP:1187487330" variation 708 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:1233532136" variation 712 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:372757441" variation 713 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1472560155" variation 715 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:764936453" variation 716 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1420431374" variation 717 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:370062495" regulatory 718..723 /regulatory_class="polyA_signal_sequence" /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="hexamer: ATTAAA" variation 718 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1170433290" variation 719 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="g" /replace="t" /db_xref="dbSNP:762181013" variation 721..733 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="aaactgtaaagga" /db_xref="dbSNP:1986934271" variation 722 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="t" /db_xref="dbSNP:1986934338" variation 724..725 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="ct" /replace="ctct" /db_xref="dbSNP:1412135488" variation 725..727 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="t" /replace="tgt" /db_xref="dbSNP:1330242935" variation 727 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="t" /db_xref="dbSNP:1986934530" variation 728 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:146845502" variation 730 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1413786386" variation 731 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="a" /replace="g" /db_xref="dbSNP:1986934725" variation 732 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /replace="c" /replace="g" /db_xref="dbSNP:750974663" polyA_site 736 /gene="CSTL1" /gene_synonym="CTES1; dJ322G13.4; RCET11" /note="major polyA site" ORIGIN
agggggatcctgcaagcagaaatctgtggtgggcgggcggcaggtgagcaaggagaacgtgtctgtaaaggaagcacagggaacaggtggtggctttgtaagacagttggaacccaaggaaggcaggccatcccccaggaaagcctatgttggtgagggttatgatgggagaatgagtgaactgcagcctggcaccaccacaccctggaaggtgcagttgggaagaaagtttctgaggctgtagacatggggatcggatgctggagaaaccccctgctgctgctgattgccctggtcctgtcagccaagctgggtcacttccaaaggtgggagggcttccagcagaagctcatgagcaagaagaacatgaattcaacactcaacttcttcattcaatcctacaacaatgccagcaacgacacctacttatatcgagtccagaggctaattcgaagtcagatgcagctgacgacgggagtggagtatatagtcactgtgaagattggctggaccaaatgcaagaggaatgacacgagcaattcttcctgccccctgcaaagcaagaagctgagaaagagtttaatttgcgagtctttgatatacaccatgccctggataaactatttccagctctggaacaattcctgtctggaggccgagcatgtgggcagaaacctcagatgagggctcatatgattgagttgtgcactggctgttattaaactgtaaaggatca
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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