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Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.


RefSeq Accession Definition Services Price Order
NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. ORF Sequence $433.26
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RefSeq Version NM_006996.2, 170671735
Length 3655 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.
Product thiamine transporter 1
Comment

Summary: This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. [provided by RefSeq, Jul 2008].

RefSeq NP_008927.1
CDS 205..1698
Misc Feature(1)43..45
Misc Feature(2)286..1578
Misc Feature(3)286..1578
Misc Feature(4)289..342
Misc Feature(5)421..477
Misc Feature(6)502..558
Misc Feature(7)589..651
Misc Feature(8)700..759
Misc Feature(9)778..828
Misc Feature(10)1060..1134
Misc Feature(11)1216..1266
Misc Feature(12)1294..1344
Misc Feature(13)1363..1431
Misc Feature(14)1462..1533
Misc Feature(15)1570..1641
Exon (1)1..408
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Exon (2)409..1011
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Exon (3)1012..1234
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Exon (4)1235..1427
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Exon (5)1428..1569
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Exon (6)1570..3638
Gene:SLC19A2
Gene Synonym:TC1; THMD1; THT1; THTR1; TRMA
Translation MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGP DKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQG LLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILV SVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWST WGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK KCRKLEDPQSSSQVTTS
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Position Chain Variation Link
complement(9)-dbSNP:
complement(9)-t, gdbSNP:72542444
complement(10)-g, cdbSNP:72542443
complement(91)-g, adbSNP:145285893
complement(182)-g, cdbSNP:181612338
complement(201)-t, cdbSNP:2072757
complement(334)-g, cdbSNP:202220171
complement(356)-t, cdbSNP:121908540
complement(416)-dbSNP:
complement(416)-t, cdbSNP:149595229
complement(421..422)-, tdbSNP:35735941
complement(468)-t, cdbSNP:139451748
complement(523)-t, cdbSNP:113927216
complement(607)-c, adbSNP:79619136
complement(688)-t, cdbSNP:74315373
complement(689)-t, cdbSNP:138777536
complement(702)-g, cdbSNP:142264897
complement(719)-g, adbSNP:28937595
complement(765)-c, adbSNP:150548640
complement(775)-t, cdbSNP:143242201
complement(785)-g, cdbSNP:141677505
complement(792)-g, adbSNP:146835764
complement(811)-c, adbSNP:79200380
complement(813)-g, adbSNP:201145413
complement(843)-t, cdbSNP:137970656
complement(954)-g, adbSNP:74315374
complement(957)-c, adbSNP:202049979
complement(997)-t, cdbSNP:17847481
complement(999)-g, adbSNP:201489069
complement(1000)-t, cdbSNP:75099879
complement(1009)-g, adbSNP:147483952
complement(1027)-dbSNP:
complement(1027)-g, adbSNP:138868959
complement(1028)-c, adbSNP:61734338
complement(1141)-c, adbSNP:77643490
complement(1165)-t, cdbSNP:140115461
complement(1167)-t, cdbSNP:201746611
complement(1183)-g, adbSNP:151131241
complement(1205)-t, cdbSNP:199921604
complement(1210)-c, adbSNP:148047353
complement(1218)-g, cdbSNP:143780369
complement(1267)-dbSNP:
complement(1267)-t, gdbSNP:200879349
complement(1278)-g, adbSNP:74315375
complement(1284)-g, adbSNP:3737682
complement(1297)-t, adbSNP:150049339
complement(1358)-t, cdbSNP:112877627
complement(1382)-t, cdbSNP:191739057
complement(1403)-t, cdbSNP:202061111
complement(1419)-t, cdbSNP:61049753
complement(1459)-dbSNP:
complement(1459)-g, adbSNP:200631927
complement(1482)-t, cdbSNP:200813632
complement(1508)-t, cdbSNP:147201698
complement(1516)-g, adbSNP:148027038
complement(1518)-g, adbSNP:149313767
complement(1526)-t, cdbSNP:17847484
complement(1563)-g, adbSNP:140938034
complement(1571)-dbSNP:
complement(1571)-t, adbSNP:150315717
complement(1573)-g, adbSNP:80276389
complement(1584)-g, adbSNP:151078749
complement(1603)-t, cdbSNP:147884156
complement(1608)-c, adbSNP:201297176
complement(1687)-t, cdbSNP:111528191
complement(1758)-t, c, adbSNP:2678166
complement(1775)-t, cdbSNP:116013739
complement(1843)-g, adbSNP:149502153
complement(1924)-t, cdbSNP:191990888
complement(1925)-t, gdbSNP:77864015
complement(1926)-g, adbSNP:79128536
complement(2414)-g, adbSNP:187199406
complement(2523)-t, adbSNP:112286287
complement(2665)-t, cdbSNP:16862199
complement(2944)-c, adbSNP:181914254
complement(2969)-g, adbSNP:189219624
complement(3069)-g, adbSNP:184461354
complement(3119)-t, cdbSNP:74121673
complement(3222)-g, adbSNP:79478264
complement(3240)-c, adbSNP:79893694
complement(3312)-g, cdbSNP:150793931
complement(3500)-t, cdbSNP:181359517
complement(3512)-t, cdbSNP:12091844
Gene SymbolSLC19A2
Gene SynonymTC1; THMD1; THT1; THTR1; TRMA
Chromosome1
Locus Map1q23.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. Full Length $1279.25
ORF Sequence $433.26
Title Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia .
Author Shaw-Smith,C., Flanagan,S.E., Patch,A.M., Grulich-Henn,J., Habeb,A.M., Hussain,K., Pomahacova,R., Matyka,K., Abdullah,M., Hattersley,A.T. and Ellard,S.
Journal Pediatr Diabetes 13 (4), 314-321 (2012)
Title Thiamine-responsive megaloblastic anemia syndrome: a novel mutation .
Author Yilmaz Agladioglu,S., Aycan,Z., Bas,V.N., Peltek Kendirci,H.N. and Onder,A.
Journal Genet. Couns. 23 (2), 149-156 (2012)
Title Genetics of venous thrombosis: insights from a new genome wide association study .
Author Germain,M., Saut,N., Greliche,N., Dina,C., Lambert,J.C., Perret,C., Cohen,W., Oudot-Mellakh,T., Antoni,G., Alessi,M.C., Zelenika,D., Cambien,F., Tiret,L., Bertrand,M., Dupuy,A.M., Letenneur,L., Lathrop,M., Emmerich,J., Amouyel,P., Tregouet,D.A. and Morange,P.E.
Journal PLoS ONE 6 (9), E25581 (2011)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women] .
Author Liao,Y.P., Bao,M.S., Liu,C.Q., Liu,H. and Zhang,D.
Journal Yi Chuan 32 (5), 461-466 (2010)
Title Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome .
Author Diaz,G.A., Banikazemi,M., Oishi,K., Desnick,R.J. and Gelb,B.D.
Journal Nat. Genet. 22 (3), 309-312 (1999)
Title The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter .
Author Fleming,J.C., Tartaglini,E., Steinkamp,M.P., Schorderet,D.F., Cohen,N. and Neufeld,E.J.
Journal Nat. Genet. 22 (3), 305-308 (1999)
Title Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness .
Author Labay,V., Raz,T., Baron,D., Mandel,H., Williams,H., Barrett,T., Szargel,R., McDonald,L., Shalata,A., Nosaka,K., Gregory,S. and Cohen,N.
Journal Nat. Genet. 22 (3), 300-304 (1999)
Title Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping .
Author Neufeld,E.J., Mandel,H., Raz,T., Szargel,R., Yandava,C.N., Stagg,A., Faure,S., Barrett,T., Buist,N. and Cohen,N.
Journal Am. J. Hum. Genet. 61 (6), 1335-1341 (1997)
Title Thiamin and the brain .
Author Haas,R.H.
Journal Annu. Rev. Nutr. 8, 483-515 (1988)

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