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Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu21071 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu21071C Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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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_001360.2, 119943111
Length 1428 bp
Structure linear
Update Date 24-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA.
Product 7-dehydrocholesterol reductase
Comment

Summary: This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009].


Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

RefSeq NP_001351.2
CDS 274..1701
Misc Feature(1)193..195
Misc Feature(2)193..195
Misc Feature(3)313..315
Misc Feature(4)313..315
Misc Feature(5)391..453
Misc Feature(6)550..1698
Misc Feature(7)733..795
Misc Feature(8)802..864
Misc Feature(9)1069..1131
Misc Feature(10)1189..1251
Misc Feature(11)1264..1326
Misc Feature(12)1531..1593
Exon (1)1..142
Gene:DHCR7
Gene Synonym:SLOS
Exon (2)143..267
Gene:DHCR7
Gene Synonym:SLOS
Exon (3)268..371
Gene:DHCR7
Gene Synonym:SLOS
Exon (4)372..594
Gene:DHCR7
Gene Synonym:SLOS
Exon (5)595..685
Gene:DHCR7
Gene Synonym:SLOS
Exon (6)686..899
Gene:DHCR7
Gene Synonym:SLOS
Exon (7)900..1104
Gene:DHCR7
Gene Synonym:SLOS
Exon (8)1105..1236
Gene:DHCR7
Gene Synonym:SLOS
Exon (9)1237..2665
Gene:DHCR7
Gene Synonym:SLOS
Translation MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
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Position Chain Variation Link
complement(49)-dbSNP:
complement(49)-g, c, adbSNP:4944946
complement(79)-c, adbSNP:141057811
complement(239)-g, adbSNP:75974711
complement(240)-c, adbSNP:145915789
complement(251)-g, adbSNP:12573951
274+a, gdbSNP:104886033
276+a, gdbSNP:121909767
287+c, tdbSNP:1127869
complement(288)-t, cdbSNP:147038941
complement(298)-t, adbSNP:115595829
complement(301)-g, cdbSNP:139166382
complement(318)-t, cdbSNP:150214075
complement(342)-g, adbSNP:199798127
complement(343)-c, adbSNP:146867923
complement(350)-t, gdbSNP:199815542
complement(357)-t, cdbSNP:372855459
complement(362)-g, cdbSNP:200334114
complement(364)-g, adbSNP:367585401
complement(365)-t, cdbSNP:370307688
complement(396)-dbSNP:
complement(396)-t, cdbSNP:376263149
complement(399)-g, adbSNP:150928869
complement(400)-t, cdbSNP:200984695
complement(404)-g, adbSNP:142897396
complement(412)-g, adbSNP:140721259
422+a, cdbSNP:104886034
424+c, tdbSNP:104886035
complement(438)-g, cdbSNP:374941029
445+a, gdbSNP:104886032
449+g, tdbSNP:104886036
458+a, tdbSNP:104886037
462+a, g, tdbSNP:1044482
complement(472)-t, cdbSNP:143999854
476+c, tdbSNP:104886038
complement(480)-g, adbSNP:1790334
complement(481)-t, cdbSNP:144512551
complement(494)-t, gdbSNP:374874199
complement(495)-g, c, adbSNP:183441430
complement(496)-t, adbSNP:370748173
complement(499)-t, cdbSNP:368473756
complement(504)-g, adbSNP:4316537
complement(505)-t, cdbSNP:373352413
complement(538)-t, adbSNP:375997113
551+c, tdbSNP:80338853
complement(562)-t, cdbSNP:150563256
569+c, tdbSNP:104886041
594+c, gdbSNP:104886040
599+dbSNP:
599+c, tdbSNP:121912195
complement(621)-g, adbSNP:373808237
629+a, tdbSNP:28938174
complement(633)-t, cdbSNP:201227366
complement(642)-g, adbSNP:373452254
complement(649)-t, cdbSNP:143587828
complement(658)-t, cdbSNP:138215017
complement(672)-g, adbSNP:147424205
complement(673)-c, adbSNP:201466849
complement(691)-dbSNP:
complement(691)-t, cdbSNP:373908315
complement(711)-g, c, adbSNP:949177
726+a, gdbSNP:104894213
complement(734)-g, cdbSNP:143312232
complement(744)-g, cdbSNP:149164866
758+c, tdbSNP:398123606
779+c, tdbSNP:80338855
complement(780)-t, cdbSNP:138185442
complement(782)-g, cdbSNP:150459687
complement(795)-g, adbSNP:140648594
complement(796)-t, cdbSNP:368269558
complement(816)-g, cdbSNP:146839126
complement(822)-g, adbSNP:115446684
complement(843)-g, adbSNP:74909468
complement(855)-g, adbSNP:150603941
complement(856)-t, cdbSNP:151170252
complement(859)-t, cdbSNP:200474791
complement(860)-g, adbSNP:142138656
complement(876)-t, gdbSNP:377727130
complement(897)-g, adbSNP:374640274
complement(930)-dbSNP:
complement(930)-g, adbSNP:376031781
complement(931)-t, gdbSNP:200659923
complement(943)-t, cdbSNP:373121544
complement(956)-t, cdbSNP:201556114
complement(960)-g, adbSNP:267603172
complement(992)-t, cdbSNP:148609143
complement(996)-c, adbSNP:369654651
997+c, tdbSNP:80338856
998+a, gdbSNP:80338857
complement(1002)-g, adbSNP:145284180
1003+a, gdbSNP:121909764
1008+c, tdbSNP:12800
1017+g, tdbSNP:104894212
complement(1035)-g, c, adbSNP:113950278
complement(1038)-g, adbSNP:200132007
complement(1044)-t, cdbSNP:200232012
complement(1095)-t, gdbSNP:139787408
1112+dbSNP:
1112+a, gdbSNP:121909766
complement(1113)-g, adbSNP:148468879
1114+a, gdbSNP:398123607
complement(1125)-t, gdbSNP:184297154
1139+c, tdbSNP:121909765
complement(1156)-t, cdbSNP:201574502
1179+c, g, tdbSNP:80338858
complement(1180)-t, cdbSNP:142808899
complement(1200)-t, gdbSNP:149974099
complement(1201)-t, cdbSNP:370955781
complement(1230)-t, cdbSNP:200157761
1249+dbSNP:
1249+g, tdbSNP:80338859
complement(1260)-g, adbSNP:145901607
complement(1261)-t, cdbSNP:139724817
complement(1277)-g, cdbSNP:77762671
complement(1281)-g, adbSNP:75225632
complement(1284)-g, adbSNP:369382960
complement(1285)-t, cdbSNP:72954276
complement(1291)-t, cdbSNP:148081697
complement(1298)-g, adbSNP:199957106
1327+c, tdbSNP:80338860
1328+a, gdbSNP:121909768
complement(1335)-g, cdbSNP:145651408
complement(1357)-g, adbSNP:371302153
complement(1358)-t, cdbSNP:142213147
complement(1361)-t, cdbSNP:200539324
complement(1365)-t, cdbSNP:35946774
complement(1411)-g, adbSNP:373306653
complement(1425)-g, adbSNP:145084285
complement(1427)-g, cdbSNP:12577137
complement(1429)-t, cdbSNP:369837196
1431+a, c, tdbSNP:760241
1471+a, cdbSNP:78523425
complement(1476)-g, adbSNP:368867929
complement(1477)-t, cdbSNP:200099137
complement(1483)-g, adbSNP:61757582
1501+a, gdbSNP:80338862
complement(1504)-t, cdbSNP:372055524
complement(1542)-g, adbSNP:145374203
complement(1543)-c, adbSNP:368150818
1545+c, tdbSNP:909217
1546+a, gdbSNP:760242
complement(1546)-t, cdbSNP:386611848
complement(1563)-g, cdbSNP:140791666
complement(1573)-t, cdbSNP:375187933
complement(1609)-g, adbSNP:145043679
complement(1611)-g, cdbSNP:201716149
complement(1614)-g, adbSNP:139721775
1615+a, gdbSNP:80338864
complement(1627)-t, cdbSNP:140400648
complement(1635)-t, cdbSNP:147850435
complement(1639)-t, cdbSNP:201847193
complement(1641)-g, adbSNP:144562471
complement(1642)-g, adbSNP:371873032
complement(1654)-g, adbSNP:199506852
complement(1657)-g, adbSNP:201270451
complement(1662)-g, adbSNP:200477386
complement(1665)-g, adbSNP:368281869
complement(1678)-g, adbSNP:148660993
complement(1679)-t, cdbSNP:201150384
complement(1683)-t, cdbSNP:375993195
complement(1705)-g, adbSNP:371307569
complement(1729)-c, adbSNP:114143715
complement(1743)-t, cdbSNP:201871263
complement(1758)-g, adbSNP:182965373
1784+c, tdbSNP:11555218
complement(1820)-t, cdbSNP:151230950
complement(1832)-g, adbSNP:143459841
complement(1858..1869)-, aggaacagagcgdbSNP:373023739
complement(1859..1870)-, aaggaacagagcdbSNP:368755383
complement(1862..1873)-, agcaaggaacagdbSNP:141483210
complement(1862)-t, cdbSNP:200229535
complement(1893)-g, adbSNP:115338563
complement(1901)-g, adbSNP:113188310
complement(1927)-g, adbSNP:185557595
2005+g, tdbSNP:1802125
complement(2034..2035)-, agdbSNP:371981085
complement(2059)-g, adbSNP:78575838
complement(2117)-t, cdbSNP:180885292
complement(2118..2119)-, tdbSNP:34995793
complement(2152)-t, cdbSNP:11233662
2181+c, tdbSNP:1790345
complement(2202)-t, cdbSNP:370708079
complement(2266)-t, cdbSNP:79320071
2344+c, tdbSNP:1044535
complement(2350)-c, adbSNP:368948615
complement(2390..2391)-, gdbSNP:34258235
2435+a, c, g, tdbSNP:7690
2443+g, tdbSNP:1802378
complement(2456)-g, adbSNP:58046295
complement(2491)-g, adbSNP:12407
complement(2507)-t, cdbSNP:374355489
complement(2528)-t, adbSNP:146774511
complement(2530)-t, cdbSNP:190840764
complement(2590)-t, cdbSNP:185936568
complement(2640)-t, cdbSNP:143699520
Gene SymbolDHCR7
Gene SynonymSLOS
Chromosome11
Locus Map11q13.4
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. On-demand $219.00 7-9
NM_001360 Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 1, mRNA. On-demand $219.00 7-9
Title Polymorphisms in genetics of vitamin D metabolism confer susceptibility to ocular Behcet disease in a Chinese Han population .
Author Fang J, Hou S, Xiang Q, Qi J, Yu H, Shi Y, Zhou Y, Kijlstra A and Yang P.
Journal Am. J. Ophthalmol. 157 (2), 488-494 (2014)
Title Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism .
Author Corominas R, Yang X, Lin GN, Kang S, Shen Y, Ghamsari L, Broly M, Rodriguez M, Tam S, Trigg SA, Fan C, Yi S, Tasan M, Lemmens I, Kuang X, Zhao N, Malhotra D, Michaelson JJ, Vacic V, Calderwood MA, Roth FP, Tavernier J, Horvath S, Salehi-Ashtiani K, Korkin D, Sebat J, Hill DE, Hao T, Vidal M and Iakoucheva LM.
Journal Nat Commun 5, 3650 (2014)
Title Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients .
Author Petta S, Grimaudo S, Marco VD, Scazzone C, Macaluso FS, Camma C, Cabibi D, Pipitone R and Craxi A.
Journal J. Viral Hepat. 20 (7), 486-493 (2013)
Title Genetic analyses reveal a role for vitamin D insufficiency in HCV-associated hepatocellular carcinoma development .
Author Lange CM, Miki D, Ochi H, Nischalke HD, Bojunga J, Bibert S, Morikawa K, Gouttenoire J, Cerny A, Dufour JF, Gorgievski-Hrisoho M, Heim MH, Malinverni R, Mullhaupt B, Negro F, Semela D, Kutalik Z, Muller T, Spengler U, Berg T, Chayama K, Moradpour D and Bochud PY.
Journal PLoS ONE 8 (5), E64053 (2013)
Title Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome .
Author Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G and Moebius FF.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (14), 8181-8186 (1998)
Title Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome .
Author Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD and Porter FD.
Journal Am. J. Hum. Genet. 63 (1), 55-62 (1998)
Title Molecular cloning and expression of the human delta7-sterol reductase .
Author Moebius FF, Fitzky BU, Lee JN, Paik YK and Glossmann H.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (4), 1899-1902 (1998)
Title Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes .
Author Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC and Holick MF.
Journal J. Clin. Invest. 96 (4), 1779-1785 (1995)
Title Hirschsprung Disease Overview .
Author Parisi,M.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 Smith-Lemli-Opitz Syndrome .
Author Nowaczyk,M.J.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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