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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19144 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu19144C Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_016180.3, 61635914
Length 1593 bp
Structure linear
Update Date 03-MAY-2014
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)<192..788
Misc Feature(2)<192..788
Misc Feature(3)195..1664
Misc Feature(4)231..293
Misc Feature(5)297..359
Misc Feature(6)423..485
Misc Feature(7)507..569
Misc Feature(8)645..707
Misc Feature(9)741..803
Misc Feature(10)1047..1109
Misc Feature(11)1191..1253
Misc Feature(12)1287..1349
Misc Feature(13)1368..1430
Misc Feature(14)1524..1586
Misc Feature(15)1605..1667
Exon (1)1..477
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (2)478..654
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (3)655..980
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (4)981..1124
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (5)1125..1248
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (6)1249..1460
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; SHEP5
Exon (7)1461..1717
Gene:SLC45A2
Gene Synonym:1A1; AIM1; MATP; OCA4; 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(86)-t, cdbSNP:371592288
complement(91)-g, adbSNP:202056704
complement(95)-t, cdbSNP:374949938
complement(120..121)-, 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(299)-g, cdbSNP:371713094
complement(303)-t, cdbSNP:146913714
complement(311)-t, cdbSNP:367766561
complement(356)-g, cdbSNP:149213379
complement(372)-g, cdbSNP:375468358
complement(402)-g, adbSNP:372381365
complement(457)-t, cdbSNP:145379710
complement(462)-c, adbSNP:368428783
complement(468)-t, cdbSNP:375501171
complement(483)-dbSNP:
complement(483)-t, adbSNP:200623810
complement(516)-t, gdbSNP:201449781
complement(524)-g, adbSNP:200477301
complement(527)-t, gdbSNP:370982792
complement(528)-t, gdbSNP:377512040
complement(539)-g, adbSNP:199766877
complement(540)-t, cdbSNP:150033963
complement(546)-g, adbSNP:202120684
561+a, gdbSNP:121912621
complement(564)-c, adbSNP:200817017
complement(601)-g, adbSNP:112133337
complement(620)-t, cdbSNP:375319565
complement(653)-t, cdbSNP:201206701
complement(661)-dbSNP:
complement(661)-c, adbSNP:372693322
complement(677)-g, adbSNP:369597359
complement(685)-t, cdbSNP:201259497
complement(698)-g, cdbSNP:146802593
complement(713)-t, cdbSNP:374876596
complement(725)-t, cdbSNP:143611047
753..755+, ttcdbSNP:387906318
complement(812)-g, adbSNP:371802001
complement(846)-g, cdbSNP:369071328
complement(890)-g, adbSNP:375077956
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(927)-t, cdbSNP:368411468
complement(942)-t, cdbSNP:377274705
complement(984)-dbSNP:
complement(984)-g, adbSNP:148480891
complement(985)-c, adbSNP:374649089
complement(992)-t, cdbSNP:370646521
complement(1024)-c, adbSNP:202094352
complement(1044)-g, adbSNP:35990319
complement(1045)-t, c, adbSNP:142299109
complement(1049)-t, g, adbSNP:200122644
complement(1064)-g, adbSNP:373484386
1078+, cdbSNP:387906317
complement(1078)-g, adbSNP:140158799
complement(1079)-t, cdbSNP:2287949
complement(1082)-g, adbSNP:146156704
complement(1086)-g, adbSNP:370699448
complement(1087)-g, adbSNP:147157688
complement(1116)-t, cdbSNP:143509333
complement(1120)-t, cdbSNP:137938994
complement(1134)-dbSNP:
complement(1134)-g, adbSNP:372465070
complement(1137)-t, cdbSNP:146930801
1174+c, tdbSNP: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(1226)-g, adbSNP:367806428
complement(1288)-dbSNP:
complement(1288)-g, cdbSNP:145071815
complement(1300)-g, adbSNP:141286272
complement(1304)-t, adbSNP:371272564
complement(1327)-g, adbSNP:149980670
complement(1336)-g, adbSNP:112249076
complement(1346)-g, adbSNP:144503724
complement(1353)-t, cdbSNP:376394889
complement(1360)-g, adbSNP:201560110
complement(1364)-t, gdbSNP:374730575
complement(1428)-t, gdbSNP:151214882
complement(1443)-g, adbSNP:142175557
complement(1444)-t, cdbSNP:142680641
complement(1496)-dbSNP:
complement(1496)-g, adbSNP:143577894
complement(1497)-t, cdbSNP:369776002
complement(1520)-g, adbSNP:139551409
complement(1523)-g, adbSNP:376727277
1549+c, tdbSNP:121912620
complement(1559)-c, adbSNP:201771352
1590+a, cdbSNP: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
1611+c, gdbSNP:3733808
complement(1614)-c, adbSNP:375214909
complement(1625)-t, cdbSNP:373174326
complement(1630)-t, gdbSNP:373846997
complement(1640)-c, adbSNP:191164795
complement(1649)-c, adbSNP:75973969
complement(1659)-t, cdbSNP:371334000
1686+a, gdbSNP:3822467
complement(1690)-t, cdbSNP:369713742
complement(1694)-t, gdbSNP:375578316
complement(1707)-g, adbSNP:370756063
complement(1709)-t, gdbSNP:45552240
Gene SymbolSLC45A2
Gene Synonym1A1; AIM1; MATP; OCA4; SHEP5
Chromosome5
Locus Map5p13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_016180 Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA. On-demand $219.00 7-9
Title SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies .
Author Mauri L, Barone L, Al Oum M, Del Longo A, Piozzi E, Manfredini E, Stanzial F, Benedicenti F, Penco S and Patrosso MC.
Journal Gene 533 (1), 398-402 (2014)
Title Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa .
Author Lucotte G and Yuasa I.
Journal Biochem. Genet. 51 (9-10), 655-665 (2013)
Title Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism .
Author Kausar,T., Jaworek,T.J., Tariq,N., Sadia,S., Ali,M., Shaikh,R.S. and Ahmed,Z.M.
Journal J. Invest. Dermatol. 133 (4), 1099-1102 (2013)
Title Association of melanogenesis genes with skin color variation among Japanese females .
Author Abe Y, Tamiya G, Nakamura T, Hozumi Y and Suzuki T.
Journal J. Dermatol. Sci. 69 (2), 167-172 (2013)
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 CQ, Zhang LY, Zheng H, Jiang WY and Li HY.
Journal Zhonghua Yi Xue Za Zhi 92 (4), 254-258 (2012)
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 JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King
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 YF, El-Gamil M, Rosenberg SA and Robbins PF.
Journal Cancer Res. 61 (3), 1089-1094 (2001)
Title Oculocutaneous Albinism Type 4 .
Author Suzuki,T. and Hayashi,M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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