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Sequence in raw or FASTA format:

Database:

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Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu19197 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu19197C Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. Customized vector On-demand $329.00 12-14

*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_024747.5, 322310373
Length 2328 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.
Product Hermansky-Pudlak syndrome 6 protein
Comment

Summary: This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].


##Evidence-Data-START## Transcript is intronless :: BC014993.1 [ECO:0000345] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_079023.2
CDS 109..2436
Exon (1)1..2672
Gene:HPS6
Gene Synonym:HPS6
Translation MKRSGTLRLLSDLSAFGGAARLRELVAGDSAVRVRGSPDGRHLLLLRPPGAVAPQLLVAS RGPGAELERAWPAGQPSPLDAFFLPWPARPALVLVWESGLAEVWGAGVGPGWRPLQSTEL CPGGGARVVAVAALRGRLVWCEERQARAEGPSGSPAAAFSHCVCVRTLEPSGEASTSLGR THVLLHHCPAFGLLASCRQLFLVPTATTWPGVAHVLLIWSPGKGKVMVAAPRLGLSYSKS LNPGRGDTWDFRTLLRGLPGLLSPREPLAVHTWAPTPQGLLLLDFGGTVSLLQSHGGTRA VGTLQEAPVGPWGSAALGTFQGTLACVLGSTLELLDMGSGQLLERKVLSTDRVHLLEPPA PGMEDEEELETRGNLRLLSALGLFCVGWEAPQGVELPSAKDLVFEEACGYYQRRSLRGAQ LTPEELRHSSTFRAPQALASILQGHLPPSALLTMLRTELRDYRGLEQLKAQLVAGDDEEA GWTELAEQEVARLLRTELIGDQLAQLNTVFQALPTAAWGATLRALQLQLDGNGKLRSQAP PDVWKKVLGGITAGKEPPNGILPPFELLCQCLCQLEPRWLPPFVELAQQQGGPGWGAGGP GLPLYRRALAVLGEEGTRPEALELELLLSSGRPKAVLQAVGQLVQKEQWDRALDAGLALG PSSPLLRSEIFKLLLAEFAQHRRLDAHLPLLCRLCPPELAPAELLLLLRTYLPDEVGPPT PFPEPGAEPPLTVGLLKALLEQTGAQGWLSGPVLSPYEDILWDPSTPPPTPPRDL
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Position Chain Variation Link
104+dbSNP:
104+a, gdbSNP:376684120
207+dbSNP:
207+a, gdbSNP:139591041
complement(331)-g, adbSNP:281865107
complement(346..347)-, cdbSNP:281865108
375+a, gdbSNP:368105325
385+g, tdbSNP:185571437
430+g, tdbSNP:142777642
445+c, tdbSNP:371307947
506+c, tdbSNP:199816481
517+a, cdbSNP:371552989
545+c, gdbSNP:200727836
561+a, gdbSNP:375038135
563+c, tdbSNP:369112226
585+c, tdbSNP:373651902
608+c, tdbSNP:144738655
618+c, tdbSNP:376690720
620+c, g, tdbSNP:202026453
624+a, gdbSNP:3737243
638+a, gdbSNP:373522289
648+c, tdbSNP:149575853
649+a, gdbSNP:144257610
732+a, cdbSNP:377464720
740+c, gdbSNP:200584437
742+a, gdbSNP:375789510
751+g, tdbSNP:369389149
803+a, gdbSNP:148715290
806+a, cdbSNP:36078476
806+a, cdbSNP:386584412
855+c, gdbSNP:201552426
875+a, gdbSNP:147531348
878+a, gdbSNP:373015076
896+c, tdbSNP:375236824
914+c, tdbSNP:140164002
complement(923)-g, adbSNP:281865109
942+c, gdbSNP:145571940
963+c, tdbSNP:376528167
1001+c, tdbSNP:371019818
1003+c, tdbSNP:201628418
1004+a, gdbSNP:372683598
1006+a, g, tdbSNP:151079167
complement(1021)-g, adbSNP:281865110
1028+c, tdbSNP:376951578
1040+c, tdbSNP:201878993
1041+a, gdbSNP:200281648
1110+a, gdbSNP:200891467
1143+a, gdbSNP:374860183
1147+a, gdbSNP:139517839
1168+c, tdbSNP:149692177
complement(1174..1175)-, cdbSNP:281865111
1191+c, tdbSNP:145477483
1225+a, gdbSNP:140222296
1226+a, gdbSNP:143974193
1257+a, gdbSNP:377068489
1260+c, tdbSNP:200681093
1274+a, cdbSNP:377250561
1289+c, tdbSNP:146521433
complement(1342)-g, adbSNP:281865112
1348+c, gdbSNP:369753117
1349+a, gdbSNP:367864487
1359+g, tdbSNP:372702602
1361+g, tdbSNP:201468546
1405+c, tdbSNP:375759799
1454+c, gdbSNP:141068948
1458..1459+, ctdbSNP:200096984
1471+c, tdbSNP:144777687
1480+a, gdbSNP:148245209
1486+c, tdbSNP:201358051
1495+a, cdbSNP:199891110
1496+a, gdbSNP:141011469
1515+a, gdbSNP:367765972
1560+c, gdbSNP:4919608
1565+c, tdbSNP:139679441
1566+a, gdbSNP:149757188
1583+a, gdbSNP:369226731
1588+c, tdbSNP:138737640
1645+c, tdbSNP:143026366
1689+c, tdbSNP:113795554
1764+c, tdbSNP:374970507
1800+c, tdbSNP:147449083
complement(1821..1824)-, cagadbSNP:281865113
1823+c, tdbSNP:202086504
1872+a, gdbSNP:145597717
1878+c, gdbSNP:144049640
1886+c, tdbSNP:144363206
1887+a, gdbSNP:77529785
1896..1897+cc, ggdbSNP:386747088
1900+c, gdbSNP:201244347
1924+c, tdbSNP:200618225
1927+c, tdbSNP:377169467
1964+c, gdbSNP:142128502
complement(1973..1974)-, cadbSNP:281865114
2052+a, gdbSNP:150750829
2059+c, tdbSNP:376165374
2072+c, tdbSNP:369207861
2107+c, tdbSNP:373272174
2130+c, gdbSNP:370561658
2131+c, gdbSNP:200340404
2137+a, gdbSNP:373272114
2156+a, gdbSNP:373505445
2174+c, tdbSNP:375791336
2187+a, cdbSNP:202134132
2197+c, tdbSNP:199669368
2207+c, tdbSNP:372494008
2257+a, gdbSNP:111442389
2275+c, tdbSNP:201293329
2283+g, tdbSNP:368314316
2286+a, tdbSNP:200902694
2289+a, gdbSNP:199518658
complement(2316)-g, adbSNP:3758556
2332+a, cdbSNP:201500586
2340+c, gdbSNP:367817082
2346+a, gdbSNP:371739854
2347+a, gdbSNP:375405714
2358+a, gdbSNP:139161525
2362+a, cdbSNP:367872565
2368+c, gdbSNP:202188533
2389+c, gdbSNP:368158267
2394+c, gdbSNP:139669980
2410+a, cdbSNP:377009742
2414+c, tdbSNP:369970908
2431+a, cdbSNP:4917959
2434+c, tdbSNP:200206362
2465+g, tdbSNP:201647371
2467+c, tdbSNP:377203583
2614+g, tdbSNP:3816
Gene SymbolHPS6
Gene SynonymHPS6
Chromosome10
Locus Map10q24.32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_024747 Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA. On-demand TBD TBD
Title Targeting protein-trafficking pathways alters melanoma treatment sensitivity .
Author Huang ZM, Chinen M, Chang PJ, Xie T, Zhong L, Demetriou S, Patel MP, Scherzer R, Sviderskaya EV, Bennett DC, Millhauser GL, Oh DH, Cleaver JE and Wei ML.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (2), 553-558 (2012)
Title Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6 .
Author Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG and Gahl WA.
Journal J. Med. Genet. 46 (12), 803-810 (2009)
Title A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease .
Author Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J and Goate A.
Journal Am. J. Hum. Genet. 78 (1), 78-88 (2006)
Title Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6 .
Author Di Pietro SM, Falcon-Perez JM and Dell'Angelica EC.
Journal Traffic 5 (4), 276-283 (2004)
Title Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 .
Author Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA and Swank RT.
Journal Nat. Genet. 33 (2), 145-153 (2003)
Title Hermansky-Pudlak Syndrome .
Author Gahl,W.A. and Huizing,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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