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2024-04-24 08:57:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001258413 2353 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens solute carrier family 5 (sodium/glucose
cotransporter), member 11 (SLC5A11), transcript variant 4, mRNA.
ACCESSION NM_001258413
VERSION NM_001258413.1 GI:385862201
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 2353)
AUTHORS Tsai,L.J., Hsiao,S.H., Tsai,L.M., Lin,C.Y., Tsai,J.J., Liou,D.M.
and Lan,J.L.
TITLE The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune
modifier gene in SLE
JOURNAL Tissue Antigens 71 (2), 114-126 (2008)
PUBMED 18069935
REMARK GeneRIF: SLC5A11 is involved with some immune effects and interacts
with immune-related gene(s); it is consistent with its function as
an autoimmune modifier gene.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 2353)
AUTHORS Coady,M.J., Wallendorff,B., Gagnon,D.G. and Lapointe,J.Y.
TITLE Identification of a novel Na+/myo-inositol cotransporter
JOURNAL J. Biol. Chem. 277 (38), 35219-35224 (2002)
PUBMED 12133831
REFERENCE 3 (bases 1 to 2353)
AUTHORS Roll,P., Massacrier,A., Pereira,S., Robaglia-Schlupp,A., Cau,P. and
Szepetowski,P.
TITLE New human sodium/glucose cotransporter gene (KST1): identification,
characterization, and mutation analysis in ICCA (infantile
convulsions and choreoathetosis) and BFIC (benign familial
infantile convulsions) families
JOURNAL Gene 285 (1-2), 141-148 (2002)
PUBMED 12039040
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DC332171.1, BC057780.1, AY044906.1 and AA772233.1.
Summary: Cotransporters, such as SLC5A11, represent a major class
of proteins that make use of ion gradients to drive active
transport for the cellular accumulation of nutrients,
neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed
12039040].[supplied by OMIM, Mar 2008].
Transcript Variant: This variant (4) lacks an internal exon and
initiates translation at a downstream, in-frame start codon,
compared to variant 1. The encoded isoform (4) has a shorter
N-terminus, compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: BC057780.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-328 DC332171.1 1-328
329-890 BC057780.1 198-759
891-2340 AY044906.1 901-2350
2341-2353 AA772233.1 1-13 c
FEATURES Location/Qualifiers
source 1..2353
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p12.1"
gene 1..2353
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="solute carrier family 5 (sodium/glucose
cotransporter), member 11"
/db_xref="GeneID:115584"
/db_xref="HGNC:23091"
/db_xref="MIM:610238"
exon 1..150
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 18
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="g"
/db_xref="dbSNP:368627052"
variation 61
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150759703"
variation 64
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139779417"
variation 118
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143698591"
exon 151..357
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 178
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:58606571"
variation 199
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147251956"
variation 265
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140745402"
variation 267
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113554867"
variation 275
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370109994"
variation 289
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:116892219"
misc_feature 307..309
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="upstream in-frame stop codon"
variation 333
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:145781272"
exon 358..429
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 361
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:36048966"
variation 413
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:112227478"
CDS 415..2250
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="isoform 4 is encoded by transcript variant 4;
putative sodium-coupled cotransporter RKST1; homolog of
rabbit KST1; sodium/myo-inositol cotransporter 2;
sodium/glucose cotransporter KST1; sodium-dependent
glucose cotransporter; Na(+)/myo-inositol cotransporter 2;
sodium/myo-inositol transporter 2"
/codon_start=1
/product="sodium/myo-inositol cotransporter 2 isoform 4"
/protein_id="NP_001245342.1"
/db_xref="GI:385862202"
/db_xref="CCDS:CCDS58439.1"
/db_xref="GeneID:115584"
/db_xref="HGNC:23091"
/db_xref="MIM:610238"
/translation="
MVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELNGLFSVLMLAWIFLPIYIAGQVTTMPEYLRKRFGGIRIPIILAVLYLFIYIFTKISVDMYAGAIFIQQSLHLDLYLAIVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVGGMEGLKEKYFLALASNRSENSSCGLPREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAKNLSHAKGGALMAAYLKVLPLFIMVFPGMVSRILFPDQVACADPEICQKICSNPSGCSDIAYPKLVLELLPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWNHLRPRASEKELMIVGRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGAFWGLISGLLLGLVRLVLDFIYVQPRCDQPDERPVLVKSIHYLYFSMILSTVTLITVSTVSWFTEPPSKEMVSHLTWFTRHDPVVQKEQAPPAAPLSLTLSQNGMPEASSSSSVQFEMVQENTSKTHSCDMTPKQSKVVKAILWLCGIQEKGKEELPARAEAIIVSLEENPLVKTLLDVNLIFCVSCAIFIWGYFA
"
misc_feature 415..2247
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="Na(+)/chiro-inositol cotransporter SGLT6 and
related proteins; solute-binding domain; Region:
SLC5sbd_SGLT6; cd11490"
/db_xref="CDD:212059"
misc_feature order(448..450,457..459,1372..1374,1381..1386)
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="Na binding site [ion binding]; other site"
/db_xref="CDD:212059"
misc_feature 961..963
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="putative glycosylation site [posttranslational
modification]; other site"
/db_xref="CDD:212059"
variation 426
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147549055"
exon 430..534
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 437
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371602410"
variation 448
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374881682"
variation 455
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140183762"
variation 460
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200408247"
exon 535..594
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 555
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199550725"
exon 595..699
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 597
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368702172"
variation 603
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142821360"
variation 631
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373857227"
exon 700..805
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 714
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:8052587"
variation 767
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11074656"
variation 793
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146802677"
variation 797
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201071374"
variation 798
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9932619"
exon 806..886
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 808
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368802168"
variation 831
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:74015770"
variation 845
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138777129"
variation 849
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201007741"
variation 872
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373030092"
variation 876
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375189875"
variation 885
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376938001"
exon 887..1092
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 891
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:274081"
variation 892
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61744722"
variation 896
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200088797"
variation 936
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143588834"
variation 951
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200273165"
variation 952
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147985837"
variation 968
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371829346"
variation 982
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374864110"
variation 993
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111658035"
variation 994
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147167831"
variation 996
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:35993597"
variation 1013
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143257558"
variation 1014
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201711094"
variation 1031
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201564571"
variation 1032
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369610204"
variation 1034
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373012382"
variation 1059
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200548569"
variation 1086
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376534051"
exon 1093..1228
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1093
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35825308"
variation 1098
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150065146"
variation 1105
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371082919"
variation 1106
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375643511"
variation 1107
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144367553"
variation 1133
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148717591"
variation 1175
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143584843"
variation 1197
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368600686"
variation 1212
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372688531"
variation 1215
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146829094"
variation 1227
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376647196"
exon 1229..1336
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1251
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147495923"
variation 1279
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143409067"
variation 1283
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200594115"
variation 1293
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184195172"
variation 1299
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17772929"
variation 1312
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199631125"
variation 1314
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369534820"
variation 1315
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372298696"
variation 1323
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:377371301"
exon 1337..1487
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1342
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140262201"
variation 1343
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150379174"
variation 1379
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201298732"
variation 1380
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142930904"
variation 1386
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377751008"
variation 1426
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193201573"
variation 1447
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151082145"
variation 1448
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371000727"
exon 1488..1656
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1539
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:367762155"
variation 1577
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17854935"
variation 1587
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145761147"
variation 1610..1611
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="gg"
/db_xref="dbSNP:143692477"
variation 1613..1614
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="ggg"
/db_xref="dbSNP:376983040"
variation 1613
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:76309826"
variation 1646
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374032922"
variation 1649
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367995045"
exon 1657..1872
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1679
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372842024"
variation 1680
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377195459"
variation 1686
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:368806962"
variation 1714
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138599553"
variation 1725
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142762087"
variation 1726
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373043652"
variation 1736
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373228519"
variation 1740
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148842039"
variation 1741
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377315381"
variation 1757
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370702626"
variation 1760
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113001577"
variation 1770
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200082381"
variation 1811
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113296816"
variation 1817
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370263287"
variation 1823
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202190705"
variation 1828
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150704603"
variation 1836
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200934183"
variation 1837
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35038575"
variation 1851
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200970435"
variation 1858
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376258271"
exon 1873..2044
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1888
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371993218"
variation 1898
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141986069"
variation 1902
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146295406"
variation 1909
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139484914"
variation 1949
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:116112035"
variation 1958
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:145226478"
variation 1975
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148456649"
variation 1982..1983
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="cagcag"
/db_xref="dbSNP:374299311"
variation 1983..1985
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="cag"
/db_xref="dbSNP:140499762"
variation 2007
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376857207"
variation 2008
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142615879"
variation 2027
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199973132"
variation 2028
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151021366"
exon 2045..2345
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 2073
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200475829"
variation 2105
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142247783"
variation 2129
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145800390"
variation 2139
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373626846"
variation 2193
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147778032"
variation 2199
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377719942"
variation 2211
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141077892"
variation 2212
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199739042"
variation 2214
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34739151"
variation 2219
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:146878626"
variation 2221
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368113331"
variation 2223
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:137978405"
variation 2296
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:371668463"
ORIGIN
actgcggtgagggctgtggctggacgtccctcctggcactttgcctctgtcccctccatccgccgccagcatttttcctcccctccccttcctccagctcgtcccaagcctgcctgtccccagcgtggaggcgggacagtggaagactggctgaggctggagtttggagtttgacccgcttggaggctctctcagcagcgggcatataggaggaagggtcactgctgtctccggaagctcttggctgcaaagagagaggatcccgggtatctccctccttacaaccaccgccacctcctagtgccttagaagccactgacagcccccagggcaggtgagccctgcatctggaataagtccacagtgaagaccaaaagagacacagtgaaaggctacttcctggctggaggggacatggtgtggtggccagtgggtgcatccttgtttgccagcaatgttggaagtggacatttcattggcctggcagggtcaggtgctgctacgggcatttctgtatcagcttatgaacttaatggcttgttttctgtgctgatgttggcctggatcttcctacccatctacattgctggtcaggtcaccacgatgccagaatacctacggaagcgcttcggtggcatcagaatccccatcatcctggctgtactctacctatttatctacatcttcaccaagatctcggtagacatgtatgcaggtgccatcttcatccagcagtctttgcacctggatctgtacctggccatagttgggctactggccatcactgctgtatacacggttgctggtggcctggctgctgtgatctacacggatgccctgcagacgctgatcatgcttataggagcgctcaccttgatgggctacagttttgccgcggttggtgggatggaaggactgaaggagaagtacttcttggccctggctagcaaccggagtgagaacagcagctgcgggctgccccgggaagatgccttccatattttccgagatccgctgacatctgatctcccgtggccgggggtcctatttggaatgtccatcccatccctctggtactggtgcacggatcaggtgattgtccagcggactctggctgccaagaacctgtcccatgccaaaggaggtgctctgatggctgcatacctgaaggtgctgcccctcttcataatggtgttccctgggatggtcagccgcatcctcttcccagatcaagtggcctgtgcagatccagagatctgccagaagatctgcagcaacccctcaggctgttcggacatcgcgtatcccaaactcgtgctggaactcctgcccacagggctccgtgggctgatgatggctgtgatggtggcggctctcatgtcctccctcacctccatctttaacagtgccagcaccatcttcaccatggacctctggaatcacctccggcctcgggcatctgagaaggagctcatgattgtgggcagggtgtttgtgctgctgctggtcctggtctccatcctctggatccctgtggtccaggccagccagggcggccagctcttcatctatatccagtccatcagctcctacctgcagccgcctgtggcggtggtcttcatcatgggatgtttctggaagaggaccaatgaaaagggtgccttctggggcctgatctcgggcctgctcctgggcttggttaggctggtcctggactttatttacgtgcagcctcgatgcgaccagccagatgagcgcccggtcctggtgaagagcattcactacctctacttctccatgatcctgtccacggtcaccctcatcactgtctccaccgtgagctggttcacagagccaccctccaaggagatggtcagccacctgacctggtttactcgtcacgaccccgtggtccagaaggaacaagcaccaccagcagctcccttgtctcttaccctctctcagaacgggatgccagaggccagcagcagcagcagcgtccagttcgagatggttcaagaaaacacgtctaaaacccacagctgtgacatgaccccaaagcagtccaaagtggtgaaggccatcctgtggctctgtggaatacaggagaagggcaaggaagagctcccggccagagcagaagccatcatagtttccctggaagaaaaccccttggtgaagaccctcctggacgtcaacctcattttctgcgtgagctgcgccatctttatctggggctattttgcttagtgtggggtgaacccaggggtccaaactctgtttctcttcagtgctccatttttttaatgaaagaaaaaataataaagcttttgtttaccacaaggaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:115584 -> Molecular function: GO:0015293 [symporter activity] evidence: IEA
GeneID:115584 -> Biological process: GO:0006814 [sodium ion transport] evidence: IEA
GeneID:115584 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:115584 -> Biological process: GO:0008643 [carbohydrate transport] evidence: IEA
GeneID:115584 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
GeneID:115584 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:115584 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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