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Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001142805 Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

*Business Day

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RefSeq Version NM_001142805.1, 218563755
Length 3550 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 2, mRNA.
Product sodium- and chloride-dependent creatine transporter 1 isoform 2
Comment

Summary: The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].


Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks a 10-aa segment but has the same N- and C-termini, compared to isoform 1.

RefSeq NP_001136277.1
CDS 279..2156
Misc Feature(1)219..221
Misc Feature(2)402..404
Misc Feature(3)402..404
Misc Feature(4)432..2111
Misc Feature(5)459..521
Misc Feature(6)order(477..479,486..488,1485..1487,1494..1499)
Misc Feature(7)540..602
Misc Feature(8)693..755
Misc Feature(9)969..1031
Misc Feature(10)1086..1148
Misc Feature(11)1191..1253
Misc Feature(12)1431..1493
Misc Feature(13)1581..1643
Misc Feature(14)1686..1748
Misc Feature(15)1809..1871
Misc Feature(16)1929..1991
Exon (1)1..540
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (2)541..672
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (3)673..922
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (4)923..1055
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (5)1056..1190
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (6)1191..1294
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (7)1295..1389
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (8)1390..1502
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (9)1503..1640
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (10)1641..1743
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (11)1744..1844
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (12)1845..2015
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Exon (13)2016..3535
Gene:SLC6A8
Gene Synonym:CRT; CRTR; CT1
Translation MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMD FIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGS INVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPD CVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLL ACWVLVYFCVWKGVKSTGKIVYFTATFPYVVLVVLLVRGVLLPGALDGIIYYLKPDWSKL GSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFNNNCYNGTSFFAGFVVFSILGFMAAEQ GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLLLLGLDSQFVGVEGFITGLL DLLPASYYFRFQREISVALCCALCFVIDLSMVTDGGMYVFQLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDIACMIGYRPCPWMKWCWSFFTPLVCMGIFIFNVVYYEPLVYNNT YVYPWWGEAMGWAFALSSMLCVPLHLLGCLLRAKGTMAERWQHLTQPIWGLHHLEYRAQD ADVRGLTTLTPVSESSKVVVVESVM
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Position Chain Variation Link
12+dbSNP:
12+a, cdbSNP:400512
123+c, tdbSNP:371894
274+a, gdbSNP:384573
537+a, gdbSNP:122453115
564+dbSNP:
564+c, tdbSNP:141438791
599..601+, cttdbSNP:80338739
617+c, tdbSNP:1803332
673+dbSNP:
673+g, tdbSNP:122453117
725+c, tdbSNP:143855413
773+c, tdbSNP:144904949
776+a, gdbSNP:201260657
811+c, gdbSNP:199937648
815+c, tdbSNP:202136567
822+a, gdbSNP:149024147
881+c, tdbSNP:143019641
1058+dbSNP:
1058+c, tdbSNP:148232368
1085+c, tdbSNP:141219551
1086+a, gdbSNP:146985734
1091+c, tdbSNP:138064933
1097+c, tdbSNP:143750068
1103+a, gdbSNP:150579348
1104+c, tdbSNP:138634140
1109+a, gdbSNP:149357346
1220+c, gdbSNP:144678921
1253+a, cdbSNP:148545112
1289+c, gdbSNP:122453116
1389+dbSNP:
1389+c, gdbSNP:122453114
1420+dbSNP:
1420+a, gdbSNP:146124225
1470..1472+, ttcdbSNP:80338740
1519+dbSNP:
1519+a, gdbSNP:11548960
1522+c, tdbSNP:11548959
1619+c, tdbSNP:3179358
1660..1661+dbSNP:
1660..1661+, c, gdbSNP:34497110
1660+, adbSNP:35880208
1679+a, gdbSNP:1060453
1685+c, tdbSNP:140115896
1721+c, gdbSNP:122453118
1742+c, tdbSNP:143916832
1745+dbSNP:
1745+a, gdbSNP:199640501
1763+a, cdbSNP:151335200
1764+a, gdbSNP:201526436
1788+c, tdbSNP:122453113
1832+a, gdbSNP:201838389
1874+dbSNP:
1874+c, tdbSNP:140601882
1897+c, gdbSNP:199635059
1910+a, gdbSNP:149677083
1922+a, gdbSNP:188180929
1926+a, gdbSNP:145438966
1940+c, tdbSNP:201044530
1942+c, tdbSNP:2872523
1962+a, gdbSNP:2872524
1967+a, gdbSNP:2314070
2016+dbSNP:
2016+c, tdbSNP:2314078
2022+a, cdbSNP:2314079
2078+c, tdbSNP:1803330
2079+a, gdbSNP:146949376
2127+a, cdbSNP:201637740
2138+c, gdbSNP:138128216
2154+g, tdbSNP:4065272
2159+a, gdbSNP:2314080
2178+a, cdbSNP:58611639
2212+g, tdbSNP:3861555
2220+c, gdbSNP:3861556
2252+a, gdbSNP:3861557
2272+a, gdbSNP:3850325
2363+c, gdbSNP:6571290
2461+c, tdbSNP:60100462
2627+a, gdbSNP:4532754
2712+a, gdbSNP:2314081
2719+c, tdbSNP:145908010
2727+a, gdbSNP:1811105
2758+c, tdbSNP:4065268
2759+a, gdbSNP:184055391
2847+c, tdbSNP:138494557
2900+c, gdbSNP:3969135
3008..3010+, attdbSNP:200806041
3057+a, gdbSNP:3969136
3083+c, tdbSNP:2097220
3104..3105+, tdbSNP:34870027
3109+c, gdbSNP:143048904
3151+a, gdbSNP:188836948
3292+a, gdbSNP:13120
3324+a, cdbSNP:1803331
3353+g, tdbSNP:11548961
3383+c, tdbSNP:182097343
3386+c, gdbSNP:4898436
3472+a, gdbSNP:148180779
3501+c, gdbSNP:187134918
Gene SymbolSLC6A8
Gene SynonymCRT; CRTR; CT1
ChromosomeX
Locus MapXq28
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001142805 Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 2, mRNA. On-demand TBD TBD
NM_001142806 Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 3, mRNA. In-stock $509.00 $460.00 12
NM_005629 Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA. In-stock $639.00 $590.00 TBD
Title Detection of variants in SLC6A8 and functional analysis of unclassified missense variants .
Author Betsalel,O.T., Pop,A., Rosenberg,E.H., Fernandez-Ojeda,M., Jakobs,C. and Salomons,G.S.
Journal Mol. Genet. Metab. 105 (4), 596-601 (2012)
Title Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect .
Author van de Kamp,J.M., Pouwels,P.J., Aarsen,F.K., ten Hoopen,L.W., Knol,D.L., de Klerk,J.B., de Coo,I.F., Huijmans,J.G., Jakobs,C., van der Knaap,M.S., Salomons,G.S. and Mancini,G.M.
Journal J. Inherit. Metab. Dis. 35 (1), 141-149 (2012)
Title Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 .
Author Jensen,L.R., Chen,W., Moser,B., Lipkowitz,B., Schroeder,C., Musante,L., Tzschach,A., Kalscheuer,V.M., Meloni,I., Raynaud,M., van Esch,H., Chelly,J., de Brouwer,A.P., Hackett,A., van der Haar,S., Henn,W., Gecz,J., Riess,O., Bonin,M., Reinhardt,R., Ropers,H.H. and Kuss,A.W.
Journal Eur. J. Hum. Genet. 19 (6), 717-720 (2011)
Title Defining the pathogenicity of creatine deficiency syndrome .
Author Alcaide,P., Merinero,B., Ruiz-Sala,P., Richard,E., Navarrete,R., Arias,A., Ribes,A., Artuch,R., Campistol,J., Ugarte,M. and Rodriguez-Pombo,P.
Journal Hum. Mutat. 32 (3), 282-291 (2011)
Title Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility .
Author Iqbal,F., Item,C.B., Ratschmann,R., Ali,M., Plas,E. and Bodamer,O.
Journal Pak J Pharm Sci 24 (1), 75-79 (2011)
Title Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 .
Author Iyer,G.S., Krahe,R., Goodwin,L.A., Doggett,N.A., Siciliano,M.J., Funanage,V.L. and Proujansky,R.
Journal Genomics 34 (1), 143-146 (1996)
Title Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family .
Author Barnwell,L.F., Chaudhuri,G. and Townsel,J.G.
Journal Gene 159 (2), 287-288 (1995)
Title Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD .
Author Gregor,P., Nash,S.R., Caron,M.G., Seldin,M.F. and Warren,S.T.
Journal Genomics 25 (1), 332-333 (1995)
Title The cloning and expression of a human creatine transporter .
Author Sora,I., Richman,J., Santoro,G., Wei,H., Wang,Y., Vanderah,T., Horvath,R., Nguyen,M., Waite,S., Roeske,W.R. et al.
Journal Biochem. Biophys. Res. Commun. 204 (1), 419-427 (1994)
Title Cloning, pharmacological characterization, and genomic localization of the human creatine transporter .
Author Nash,S.R., Giros,B., Kingsmore,S.F., Rochelle,J.M., Suter,S.T., Gregor,P., Seldin,M.F. and Caron,M.G.
Journal Recept. Channels 2 (2), 165-174 (1994)


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