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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_006996.2, 170671735
Length 3655 bp
Structure linear
Update Date 03-MAY-2014
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)205..207
Misc Feature(3)205..207
Misc Feature(4)286..1578
Misc Feature(5)289..342
Misc Feature(6)421..477
Misc Feature(7)502..558
Misc Feature(8)589..651
Misc Feature(9)700..759
Misc Feature(10)778..828
Misc Feature(11)1060..1134
Misc Feature(12)1216..1266
Misc Feature(13)1294..1344
Misc Feature(14)1363..1431
Misc Feature(15)1462..1533
Misc Feature(16)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(176)-c, adbSNP:374694859
complement(182)-g, cdbSNP:181612338
201+c, tdbSNP:2072757
complement(334)-g, cdbSNP:202220171
356+c, tdbSNP:121908540
complement(360)-g, adbSNP:375301246
complement(383)-g, cdbSNP:373405573
complement(404)-t, cdbSNP:369937650
complement(416)-dbSNP:
complement(416)-t, cdbSNP:149595229
complement(421..422)-, tdbSNP:35735941
complement(442)-c, adbSNP:372403828
complement(468)-t, cdbSNP:139451748
complement(523)-t, cdbSNP:113927216
complement(562)-t, cdbSNP:371050633
complement(603)-g, adbSNP:368349356
607+a, cdbSNP:79619136
complement(622)-t, cdbSNP:374344726
688+c, tdbSNP:74315373
complement(689)-t, cdbSNP:138777536
complement(702)-g, cdbSNP:142264897
719+a, gdbSNP:28937595
complement(765)-c, adbSNP:150548640
complement(775)-t, cdbSNP:143242201
complement(785)-g, cdbSNP:141677505
complement(792)-g, adbSNP:146835764
811+a, cdbSNP:79200380
complement(813)-g, adbSNP:201145413
complement(837)-t, cdbSNP:373838257
complement(843)-t, cdbSNP:137970656
complement(856)-t, gdbSNP:376406812
954+a, gdbSNP:74315374
complement(957)-c, adbSNP:202049979
997+c, tdbSNP:17847481
complement(999)-g, adbSNP:201489069
complement(1000)-t, cdbSNP:75099879
complement(1009)-g, adbSNP:147483952
complement(1010)-g, adbSNP:370511652
complement(1027)-dbSNP:
complement(1027)-g, adbSNP:138868959
complement(1028)-c, adbSNP:61734338
complement(1074..1076)-gag, aaadbSNP:386636633
complement(1141)-c, adbSNP:77643490
complement(1159)-g, adbSNP:369961207
complement(1165)-t, cdbSNP:140115461
complement(1167)-t, cdbSNP:201746611
complement(1169)-t, gdbSNP:377281416
complement(1183)-g, adbSNP:151131241
complement(1195)-t, adbSNP:373156529
complement(1205)-t, cdbSNP:199921604
complement(1210)-c, adbSNP:148047353
complement(1218)-g, cdbSNP:143780369
complement(1267)-dbSNP:
complement(1267)-t, gdbSNP:200879349
1278+a, gdbSNP:74315375
complement(1284)-g, adbSNP:3737682
complement(1297)-t, adbSNP:150049339
complement(1343)-g, adbSNP:375188929
complement(1358)-t, cdbSNP:112877627
complement(1382)-t, cdbSNP:191739057
complement(1393)-t, adbSNP:371383730
complement(1403)-t, cdbSNP:202061111
complement(1404)-g, adbSNP:376962780
complement(1419)-t, cdbSNP:61049753
complement(1459)-dbSNP:
complement(1459)-g, adbSNP:200631927
complement(1482)-t, cdbSNP:200813632
complement(1498)-g, adbSNP:369961479
complement(1508)-t, cdbSNP:147201698
complement(1512)-t, cdbSNP:375822491
complement(1516)-g, adbSNP:148027038
complement(1518)-g, adbSNP:149313767
1526+c, tdbSNP: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(1602)-g, adbSNP:370262388
complement(1603)-t, cdbSNP:147884156
complement(1608)-c, adbSNP:201297176
complement(1640)-g, adbSNP:374046494
complement(1687)-t, cdbSNP:111528191
complement(1718)-c, adbSNP:370695604
complement(1749)-g, cdbSNP:376279404
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(1928)-g, adbSNP:372805813
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(3256..3257)-, adbSNP:372669561
complement(3312)-g, cdbSNP:150793931
complement(3500)-t, cdbSNP:181359517
complement(3512)-t, cdbSNP:12091844
complement(3603..3606)-, tattdbSNP:368702956
Gene SymbolSLC19A2
Gene SynonymTC1; THMD1; THT1; THTR1; TRMA
Chromosome1
Locus Map1q23.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_006996 Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA. On-demand TBD TBD
Title Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases .
Author Ghaemi N, Ghahraman M, Abbaszadegan MR, Baradaran-Heravi A and Vakili R.
Journal J Clin Res Pediatr Endocrinol 5 (3), 199-201 (2013)
Title Up-regulation of vitamin B1 homeostasis genes in breast cancer .
Author Zastre JA, Hanberry BS, Sweet RL, McGinnis AC, Venuti KR, Bartlett
Journal J. Nutr. Biochem. 24 (9), 1616-1624 (2013)
Title Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings .
Author Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S and Franzese A.
Journal Pediatr Diabetes 14 (5), 384-387 (2013)
Title Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia .
Author Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S and Haghighi A.
Journal Gene 519 (2), 295-297 (2013)
Title Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency .
Author Perez-Duenas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C and Artuch R.
Journal Pediatrics 131 (5), E1670-E1675 (2013)
Title The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter .
Author Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N and Neufeld EJ.
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 EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Faure S, Barrett T, Buist N and Cohen N.
Journal Am. J. Hum. Genet. 61 (6), 1335-1341 (1997)
Title Thiamine-Responsive Megaloblastic Anemia Syndrome .
Author Oishi,K. and Diaz,G.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Thiamin and the brain .
Author Haas RH.
Journal Annu. Rev. Nutr. 8, 483-515 (1988)

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