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2024-04-20 15:27:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001258411 2407 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens solute carrier family 5 (sodium/glucose
cotransporter), member 11 (SLC5A11), transcript variant 2, mRNA.
ACCESSION NM_001258411
VERSION NM_001258411.1 GI:385862197
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 2407)
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 2407)
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 2407)
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, AK303691.1, 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 (2) lacks an exon in the coding
region, but maintains the reading frame, compared to variant 1. The
encoded isoform (2) is shorter than isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AK303691.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025082, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-132 DC332171.1 1-132
133-767 AK303691.1 1-635
768-2394 AY044906.1 724-2350
2395-2407 AA772233.1 1-13 c
FEATURES Location/Qualifiers
source 1..2407
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p12.1"
gene 1..2407
/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..516
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 372
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376893340"
CDS 382..2304
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="isoform 2 is encoded by transcript variant 2;
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 2"
/protein_id="NP_001245340.1"
/db_xref="GI:385862198"
/db_xref="CCDS:CCDS58437.1"
/db_xref="GeneID:115584"
/db_xref="HGNC:23091"
/db_xref="MIM:610238"
/translation="
MESGTSSPQPPQLDPLDAFPQKGLEPGDIAVLVLYFLFVLAVGLWSTVKTKRDTVKGYFLAGGDMVWWPVGASLFASNVGSGHFIGLAGSGAATGISVSAYELNGLFSVLMLAWIFLPIYIAGQVDMYAGAIFIQQSLHLDLYLAIVGLLAITAVYTVAGGLAAVIYTDALQTLIMLIGALTLMGYSFAAVGGMEGLKEKYFLALASNRSENSSCGLPREDAFHIFRDPLTSDLPWPGVLFGMSIPSLWYWCTDQVIVQRTLAAKNLSHAKGGALMAAYLKVLPLFIMVFPGMVSRILFPDQVACADPEICQKICSNPSGCSDIAYPKLVLELLPTGLRGLMMAVMVAALMSSLTSIFNSASTIFTMDLWNHLRPRASEKELMIVGRVFVLLLVLVSILWIPVVQASQGGQLFIYIQSISSYLQPPVAVVFIMGCFWKRTNEKGAFWGLISGLLLGLVRLVLDFIYVQPRCDQPDERPVLVKSIHYLYFSMILSTVTLITVSTVSWFTEPPSKEMVSHLTWFTRHDPVVQKEQAPPAAPLSLTLSQNGMPEASSSSSVQFEMVQENTSKTHSCDMTPKQSKVVKAILWLCGIQEKGKEELPARAEAIIVSLEENPLVKTLLDVNLIFCVSCAIFIWGYFA
"
misc_feature 508..2301
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="Solute carrier families 5 and 6-like; solute
binding domain; Region: SLC5-6-like_sbd; cl00456"
/db_xref="CDD:212220"
misc_feature order(607..609,616..618,1426..1428,1435..1440)
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/note="Na binding site [ion binding]; other site"
/db_xref="CDD:212031"
variation 404
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200570182"
variation 435
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34080398"
variation 442
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140932818"
variation 463
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376121690"
variation 470
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:372492277"
variation 507
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:199905164"
variation 513
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144778631"
exon 517..588
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 520
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:36048966"
variation 572
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:112227478"
variation 585
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147549055"
exon 589..693
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 596
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371602410"
variation 607
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374881682"
variation 614
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140183762"
variation 619
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200408247"
exon 694..753
/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:199550725"
exon 754..859
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 768
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:8052587"
variation 821
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11074656"
variation 847
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146802677"
variation 851
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201071374"
variation 852
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:9932619"
exon 860..940
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 862
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368802168"
variation 885
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:74015770"
variation 899
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138777129"
variation 903
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201007741"
variation 926
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:373030092"
variation 930
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375189875"
variation 939
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376938001"
exon 941..1146
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 945
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:274081"
variation 946
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:61744722"
variation 950
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200088797"
variation 990
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143588834"
variation 1005
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200273165"
variation 1006
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147985837"
variation 1022
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371829346"
variation 1036
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374864110"
variation 1047
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111658035"
variation 1048
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147167831"
variation 1050
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:35993597"
variation 1067
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143257558"
variation 1068
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201711094"
variation 1085
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201564571"
variation 1086
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369610204"
variation 1088
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373012382"
variation 1113
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200548569"
variation 1140
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376534051"
exon 1147..1282
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1147
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35825308"
variation 1152
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:150065146"
variation 1159
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371082919"
variation 1160
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375643511"
variation 1161
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144367553"
variation 1187
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148717591"
variation 1229
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143584843"
variation 1251
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:368600686"
variation 1266
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372688531"
variation 1269
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146829094"
variation 1281
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376647196"
exon 1283..1390
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1305
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147495923"
variation 1333
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:143409067"
variation 1337
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200594115"
variation 1347
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:184195172"
variation 1353
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17772929"
variation 1366
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199631125"
variation 1368
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369534820"
variation 1369
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372298696"
variation 1377
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="c"
/db_xref="dbSNP:377371301"
exon 1391..1541
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1396
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140262201"
variation 1397
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:150379174"
variation 1433
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:201298732"
variation 1434
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142930904"
variation 1440
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377751008"
variation 1480
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193201573"
variation 1501
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:151082145"
variation 1502
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371000727"
exon 1542..1710
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1593
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:367762155"
variation 1631
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17854935"
variation 1641
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145761147"
variation 1664..1665
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="gg"
/db_xref="dbSNP:143692477"
variation 1667..1668
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="ggg"
/db_xref="dbSNP:376983040"
variation 1667
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:76309826"
variation 1700
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:374032922"
variation 1703
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:367995045"
exon 1711..1926
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1733
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:372842024"
variation 1734
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377195459"
variation 1740
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:368806962"
variation 1768
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138599553"
variation 1779
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142762087"
variation 1780
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373043652"
variation 1790
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373228519"
variation 1794
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148842039"
variation 1795
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377315381"
variation 1811
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:370702626"
variation 1814
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113001577"
variation 1824
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200082381"
variation 1865
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113296816"
variation 1871
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370263287"
variation 1877
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202190705"
variation 1882
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150704603"
variation 1890
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200934183"
variation 1891
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:35038575"
variation 1905
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200970435"
variation 1912
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376258271"
exon 1927..2098
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 1942
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:371993218"
variation 1952
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:141986069"
variation 1956
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146295406"
variation 1963
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139484914"
variation 2003
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:116112035"
variation 2012
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="g"
/replace="t"
/db_xref="dbSNP:145226478"
variation 2029
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:148456649"
variation 2036..2037
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="cagcag"
/db_xref="dbSNP:374299311"
variation 2037..2039
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace=""
/replace="cag"
/db_xref="dbSNP:140499762"
variation 2061
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376857207"
variation 2062
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142615879"
variation 2081
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199973132"
variation 2082
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151021366"
exon 2099..2399
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/inference="alignment:Splign:1.39.8"
variation 2127
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200475829"
variation 2159
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142247783"
variation 2183
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:145800390"
variation 2193
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373626846"
variation 2247
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147778032"
variation 2253
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:377719942"
variation 2265
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141077892"
variation 2266
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199739042"
variation 2268
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34739151"
variation 2273
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:146878626"
variation 2275
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="a"
/replace="g"
/db_xref="dbSNP:368113331"
variation 2277
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="t"
/db_xref="dbSNP:137978405"
variation 2350
/gene="SLC5A11"
/gene_synonym="KST1; RKST1; SGLT6; SMIT2"
/replace="c"
/replace="g"
/db_xref="dbSNP:371668463"
ORIGIN
actgcggtgagggctgtggctggacgtccctcctggcactttgcctctgtcccctccatccgccgccagcatttttcctcccctccccttcctccagctcgtcccaagcctgcctgtccccagcgtggaggcgggacagtggaagactggctgaggctggagtttggagtttgacccgcttggaggctctctcagcagcgggcatataggaggaagggtcactgctgtctccggaagctcttggctgcaaagagagaggatcccgggtatctccctccttacaaccaccgccacctcctagtgccttagaagccactgacagcccccagggcaggtgagccctgcatctggaataaggatccagaggtctcgttcaggaccatggagagcggcaccagcagccctcagcctccacagttagatcccctggatgcgtttccccagaagggcttggagcctggggacatcgcggtgctagttctgtacttcctctttgtcctggctgttggactatggtccacagtgaagaccaaaagagacacagtgaaaggctacttcctggctggaggggacatggtgtggtggccagtgggtgcatccttgtttgccagcaatgttggaagtggacatttcattggcctggcagggtcaggtgctgctacgggcatttctgtatcagcttatgaacttaatggcttgttttctgtgctgatgttggcctggatcttcctacccatctacattgctggtcaggtagacatgtatgcaggtgccatcttcatccagcagtctttgcacctggatctgtacctggccatagttgggctactggccatcactgctgtatacacggttgctggtggcctggctgctgtgatctacacggatgccctgcagacgctgatcatgcttataggagcgctcaccttgatgggctacagttttgccgcggttggtgggatggaaggactgaaggagaagtacttcttggccctggctagcaaccggagtgagaacagcagctgcgggctgccccgggaagatgccttccatattttccgagatccgctgacatctgatctcccgtggccgggggtcctatttggaatgtccatcccatccctctggtactggtgcacggatcaggtgattgtccagcggactctggctgccaagaacctgtcccatgccaaaggaggtgctctgatggctgcatacctgaaggtgctgcccctcttcataatggtgttccctgggatggtcagccgcatcctcttcccagatcaagtggcctgtgcagatccagagatctgccagaagatctgcagcaacccctcaggctgttcggacatcgcgtatcccaaactcgtgctggaactcctgcccacagggctccgtgggctgatgatggctgtgatggtggcggctctcatgtcctccctcacctccatctttaacagtgccagcaccatcttcaccatggacctctggaatcacctccggcctcgggcatctgagaaggagctcatgattgtgggcagggtgtttgtgctgctgctggtcctggtctccatcctctggatccctgtggtccaggccagccagggcggccagctcttcatctatatccagtccatcagctcctacctgcagccgcctgtggcggtggtcttcatcatgggatgtttctggaagaggaccaatgaaaagggtgccttctggggcctgatctcgggcctgctcctgggcttggttaggctggtcctggactttatttacgtgcagcctcgatgcgaccagccagatgagcgcccggtcctggtgaagagcattcactacctctacttctccatgatcctgtccacggtcaccctcatcactgtctccaccgtgagctggttcacagagccaccctccaaggagatggtcagccacctgacctggtttactcgtcacgaccccgtggtccagaaggaacaagcaccaccagcagctcccttgtctcttaccctctctcagaacgggatgccagaggccagcagcagcagcagcgtccagttcgagatggttcaagaaaacacgtctaaaacccacagctgtgacatgaccccaaagcagtccaaagtggtgaaggccatcctgtggctctgtggaatacaggagaagggcaaggaagagctcccggccagagcagaagccatcatagtttccctggaagaaaaccccttggtgaagaccctcctggacgtcaacctcattttctgcgtgagctgcgccatctttatctggggctattttgcttagtgtggggtgaacccaggggtccaaactctgtttctcttcagtgctccatttttttaatgaaagaaaaaataataaagcttttgtttaccacaaggaaaaaaaa
//
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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