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Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_016180.3, 61635914
Length 1734 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.
Product membrane-associated transporter protein isoform a
Comment

Summary: This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].


Transcript Variant: This variant (1) encodes the longer isoform (a).

RefSeq NP_057264.3
CDS 93..1685
Misc Feature(1)183..>1229
Misc Feature(2)183..>1229
Misc Feature(3)231..293
Misc Feature(4)297..359
Misc Feature(5)423..485
Misc Feature(6)507..569
Misc Feature(7)645..707
Misc Feature(8)741..803
Misc Feature(9)1047..1109
Misc Feature(10)1191..1253
Misc Feature(11)1287..1349
Misc Feature(12)1368..1430
Misc Feature(13)1524..1586
Misc Feature(14)1605..1667
Exon (1)1..477
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (2)478..654
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (3)655..980
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (4)981..1124
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (5)1125..1248
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (6)1249..1460
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Exon (7)1461..1717
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; SHEP5
Translation MGSNSGQAGRHIYKSLADDGPFDSVEPPKRPTSRLIMHSMAMFGREFCYAVEAAYVTPVL LSVGLPSSLYSIVWFLSPILGFLLQPVVGSASDHCRSRWGRRRPYILTLGVMMLVGMALY LNGATVVAALIANPRRKLVWAISVTMIGVVLFDFAADFIDGPIKAYLFDVCSHQDKEKGL HYHALFTGFGGALGYLLGAIDWAHLELGRLLGTEFQVMFFFSALVLTLCFTVHLCSISEA PLTEVAKGIPPQQTPQDPPLSSDGMYEYGSIEKVKNGYVNPELAMQGAKNKNHAEQTRRA MTLKSLLRALVNMPPHYRYLCISHLIGWTAFLSNMLFFTDFMGQIVYRGDPYSAHNSTEF LIYERGVEVGCWGFCINSVFSSLYSYFQKVLVSYIGLKGLYFTGYLLFGLGTGFIGLFPN VYSTLVLCSLFGVMSSTLYTVPFNLITEYHREEEKERQQAPGGDPDNSVRGKGMDCATLT CMVQLAQILVGGGLGFLVNTAGTVVVVVITASAVALIGCCFVALFVRYVD
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Position Chain Variation Link
complement(74)-dbSNP:
complement(74)-g, cdbSNP:200865511
complement(91)-g, adbSNP:202056704
complement(93)-t, adbSNP:141228907
complement(122..123)-, ggggdbSNP:148364566
complement(128)-g, adbSNP:148217379
complement(153)-g, adbSNP:142293994
complement(165)-g, cdbSNP:145771774
complement(174)-g, adbSNP:184484047
complement(178)-t, cdbSNP:199882086
complement(220)-g, adbSNP:141933023
complement(234)-g, adbSNP:139367018
complement(254)-t, cdbSNP:202111567
complement(303)-t, cdbSNP:146913714
complement(356)-g, cdbSNP:149213379
complement(457)-t, cdbSNP:145379710
complement(483)-dbSNP:
complement(483)-t, adbSNP:200623810
complement(516)-t, gdbSNP:201449781
complement(524)-g, adbSNP:200477301
complement(539)-g, adbSNP:199766877
complement(540)-t, cdbSNP:150033963
complement(546)-g, adbSNP:202120684
complement(561)-g, adbSNP:121912621
complement(564)-c, adbSNP:200817017
complement(570)-c, adbSNP:140504170
complement(601)-g, adbSNP:112133337
complement(653)-t, cdbSNP:201206701
complement(685)-dbSNP:
complement(685)-t, cdbSNP:201259497
complement(698)-g, cdbSNP:146802593
complement(725)-t, cdbSNP:143611047
complement(891)-t, cdbSNP:140005143
complement(895)-t, cdbSNP:201104968
complement(905)-g, adbSNP:146054661
complement(906)-t, cdbSNP:26722
complement(926)-g, adbSNP:116887602
complement(984)-dbSNP:
complement(984)-g, adbSNP:148480891
complement(1024)-c, adbSNP:202094352
complement(1044)-g, adbSNP:35990319
complement(1045)-t, c, adbSNP:142299109
complement(1049)-g, adbSNP:200122644
complement(1078)-g, c, adbSNP:140158799
complement(1079)-t, cdbSNP:2287949
complement(1082)-g, adbSNP:146156704
complement(1087)-g, adbSNP:147157688
complement(1116)-t, cdbSNP:143509333
complement(1120)-t, cdbSNP:137938994
complement(1137)-dbSNP:
complement(1137)-t, cdbSNP:146930801
complement(1174)-t, cdbSNP:121912619
complement(1175)-g, cdbSNP:141120603
complement(1181)-g, adbSNP:148156477
complement(1182)-t, cdbSNP:201140684
complement(1191)-t, cdbSNP:200308684
complement(1201)-t, cdbSNP:143764115
complement(1211)-t, gdbSNP:148973175
complement(1214)-g, cdbSNP:16891982
complement(1288)-dbSNP:
complement(1288)-g, cdbSNP:145071815
complement(1300)-g, adbSNP:141286272
complement(1301)-t, cdbSNP:146560887
complement(1327)-g, adbSNP:149980670
complement(1336)-g, adbSNP:112249076
complement(1346)-g, adbSNP:144503724
complement(1360)-g, adbSNP:201560110
complement(1428)-t, gdbSNP:151214882
complement(1443)-g, adbSNP:142175557
complement(1444)-t, cdbSNP:142680641
complement(1479)-dbSNP:
complement(1479)-t, cdbSNP:147187184
complement(1496)-g, adbSNP:143577894
complement(1520)-g, adbSNP:139551409
complement(1549)-t, cdbSNP:121912620
complement(1559)-c, adbSNP:201771352
complement(1590)-c, adbSNP:11568737
complement(1596)-t, cdbSNP:147355272
complement(1602)-t, cdbSNP:149233226
complement(1607)-g, adbSNP:184036018
complement(1608)-t, cdbSNP:138338197
complement(1610)-g, adbSNP:150473213
complement(1611)-g, cdbSNP:3733808
complement(1640)-c, adbSNP:191164795
complement(1649)-c, adbSNP:75973969
complement(1686)-g, adbSNP:3822467
complement(1709)-t, gdbSNP:45552240
Gene SymbolSLC45A2
Gene Synonym1A1; AIM1; MATP; SHEP5
Chromosome5
Locus Map5p13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001012509 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 2, mRNA. On-demand $699.00 18
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. On-demand $699.00 18
Title MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis .
Author Ibarrola-Villava,M., Hu,H.H., Guedj,M., Fernandez,L.P., Descamps,V., Basset-Seguin,N., Bagot,M., Benssussan,A., Saiag,P., Fargnoli,M.C., Peris,K., Aviles,J.A., Lluch,A., Ribas,G. and Soufir,N.
Journal Eur. J. Cancer 48 (14), 2183-2191 (2012)
Title Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism .
Author Ko,J.M., Yang,J.A., Jeong,S.Y. and Kim,H.J.
Journal Mol Med Rep 5 (4), 943-948 (2012)
Title [Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family] .
Author Xu,B., Pang,T., Yao,C.Q., Zhang,L.Y., Zheng,H., Jiang,W.Y. and Li,H.Y.
Journal Zhonghua Yi Xue Za Zhi 92 (4), 254-258 (2012)
Title Molecular analysis of Korean patients with oculocutaneous albinism .
Author Park,S.H., Chae,H., Kim,Y. and Kim,M.
Journal Jpn. J. Ophthalmol. 56 (1), 98-103 (2012)
Title Genome-wide association study identifies three new melanoma susceptibility loci .
Author Barrett,J.H., Iles,M.M., Harland,M., Taylor,J.C., Aitken,J.F., Andresen,P.A., Akslen,L.A., Armstrong,B.K., Avril,M.F., Azizi,E., Bakker,B., Bergman,W., Bianchi-Scarra,G., Bressac-de Paillerets,B., Calista,D., Cannon-Albright,L.A., Corda,E., Cust,A.E., Debniak,T., Duffy,D., Dunning,A.M., Easton,D.F., Friedman,E., Galan,P., Ghiorzo,P., Giles,G.G., Hansson,J., Hocevar,M., Hoiom,V., Hopper,J.L., Ingvar,C., Janssen,B., Jenkins,M.A., Jonsson,G., Kefford,R.F., Landi,G., Landi,M.T., Lang,J., Lubinski,J., Mackie,R., Malvehy,J., Martin,N.G., Molven,A., Montgomery,G.W., van Nieuwpoort,F.A., Novakovic,S., Olsson,H., Pastorino,L., Puig,S., Puig-Butille,J.A., Randerson-Moor,J., Snowden,H., Tuominen,R., Van Belle,P., van der Stoep,N., Whiteman,D.C., Zelenika,D., Han,J., Fang,S., Lee,J.E., Wei,Q., Lathrop,G.M., Gillanders,E.M., Brown,K.M., Goldstein,A.M., Kanetsky,P.A., Mann,G.J., Macgregor,S., Elder,D.E., Amos,C.I., Hayward,N.K., Gruis,N.A., Demenais,F., Bishop,J.A. and Bishop,D.T.
Journal Nat. Genet. 43 (11), 1108-1113 (2011)
Title Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4 .
Author Rundshagen,U., Zuhlke,C., Opitz,S., Schwinger,E. and Kasmann-Kellner,B.
Journal Hum. Mutat. 23 (2), 106-110 (2004)
Title Distinctive distribution of AIM1 polymorphism among major human populations with different skin color .
Author Nakayama,K., Fukamachi,S., Kimura,H., Koda,Y., Soemantri,A. and Ishida,T.
Journal J. Hum. Genet. 47 (2), 92-94 (2002)
Title Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 .
Author Newton,J.M., Cohen-Barak,O., Hagiwara,N., Gardner,J.M., Davisson,M.T., King,R.A. and Brilliant,M.H.
Journal Am. J. Hum. Genet. 69 (5), 981-988 (2001)
Title Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka .
Author Fukamachi,S., Shimada,A. and Shima,A.
Journal Nat. Genet. 28 (4), 381-385 (2001)
Title Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells .
Author Harada,M., Li,Y.F., El-Gamil,M., Rosenberg,S.A. and Robbins,P.F.
Journal Cancer Res. 61 (3), 1089-1094 (2001)


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