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Homo sapiens solute carrier family 30, member 10 (SLC30A10), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_018713 Homo sapiens solute carrier family 30, member 10 (SLC30A10), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_018713.2, 52351207
Length 2869 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens solute carrier family 30, member 10 (SLC30A10), transcript variant 1, mRNA.
Product zinc transporter 10
Comment

Summary: This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012].


Transcript Variant: This variant (1) is protein-coding.


##Evidence-Data-START## RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_061183.2
CDS 212..1669
Misc Feature(1)65..67
Misc Feature(2)239..>544
Misc Feature(3)239..>544
Misc Feature(4)242..304
Misc Feature(5)269..>553
Misc Feature(6)332..394
Misc Feature(7)455..517
Misc Feature(8)551..613
Misc Feature(9)<890..1360
Misc Feature(10)<905..1360
Misc Feature(11)944..1006
Misc Feature(12)1046..1108
Exon (1)1..851
Gene:SLC30A10
Gene Synonym:HMDPC; ZnT-10; ZNT10; ZNT8; ZRC1
Exon (2)852..929
Gene:SLC30A10
Gene Synonym:HMDPC; ZnT-10; ZNT10; ZNT8; ZRC1
Exon (3)930..1169
Gene:SLC30A10
Gene Synonym:HMDPC; ZnT-10; ZNT10; ZNT8; ZRC1
Exon (4)1170..2854
Gene:SLC30A10
Gene Synonym:HMDPC; ZnT-10; ZNT10; ZNT8; ZRC1
Translation MGRYSGKTCRLLFMLVLTVAFFVAELVSGYLGNSIALLSDSFNMLSDLISLCVGLSAGYI ARRPTRGFSATYGYARAEVVGALSNAVFLTALCFTIFVEAVLRLARPERIDDPELVLIVG VLGLLVNVVGLLIFQDCAAWFACCLRGRSRRLQQRQQLAEGCVPGAFGGPQGAEDPRRAA DPTAPGSDSAVTLRGTSVERKREKGATVFANVAGDSFNTQNEPEDMMKKEKKSEALNIRG VLLHVMGDALGSVVVVITAIIFYVLPLKSEDPCNWQCYIDPSLTVLMVIIILSSAFPLIK ETAAILLQMVPKGVNMEELMSKLSAVPGISSVHEVHIWELVSGKIIATLHIKYPKDRGYQ DASTKIREIFHHAGIHNVTIQFENVDLKEPLEQKDLLLLCNSPCISKGCAKQLCCPPGAL PLAHVNGCAEHNGGPSLDTYGSDGLSRRDAREVAIEVSLDSCLSDHGQSLNKTQEDQCYV NRTHF
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Position Chain Variation Link
complement(58)-dbSNP:
complement(58)-g, adbSNP:191465330
complement(158)-t, gdbSNP:115645353
complement(193)-t, cdbSNP:199933401
complement(250)-g, adbSNP:146077535
complement(307)-t, gdbSNP:138123249
complement(317)-t, cdbSNP:148361417
complement(389)-t, gdbSNP:200960734
complement(477)-t, cdbSNP:281860284
complement(495)-g, adbSNP:188273166
complement(525..533)-, cccggcccgdbSNP:281860285
complement(711)-t, cdbSNP:281860286
complement(718)-, gdbSNP:281860287
complement(760)-t, cdbSNP:201861047
complement(796)-, gdbSNP:281860288
complement(887)-dbSNP:
complement(887)-t, cdbSNP:199783843
complement(967)-dbSNP:
complement(967)-g, adbSNP:143340726
complement(976..978)-, ggtdbSNP:281860289
complement(1000)-g, adbSNP:138025172
complement(1027)-t, cdbSNP:113370181
complement(1063)-g, adbSNP:201423706
complement(1118)-g, adbSNP:34097842
complement(1133)-t, cdbSNP:281860290
complement(1147)-, tdbSNP:35117074
complement(1176)-dbSNP:
complement(1176)-t, cdbSNP:149301485
complement(1257)-t, cdbSNP:281860291
complement(1329)-t, gdbSNP:202111121
complement(1330)-t, cdbSNP:200960383
complement(1446)-, adbSNP:281860292
complement(1463)-g, cdbSNP:202169262
complement(1499)-t, cdbSNP:141152174
complement(1504)-t, gdbSNP:79106013
complement(1506)-t, cdbSNP:144098238
complement(1514)-g, adbSNP:200248346
complement(1524)-t, cdbSNP:113588126
complement(1558)-g, adbSNP:146096083
complement(1609)-g, adbSNP:148517155
complement(1619)-t, gdbSNP:149443882
complement(1648)-g, adbSNP:144010718
complement(1659)-g, adbSNP:138457091
complement(1660)-t, cdbSNP:148203711
complement(1700)-g, adbSNP:183253440
complement(1784)-g, cdbSNP:2231736
complement(1945)-g, adbSNP:138571819
complement(2130)-t, cdbSNP:147167207
complement(2274)-g, adbSNP:190901276
complement(2309)-t, cdbSNP:186031382
complement(2339)-g, adbSNP:12092481
complement(2413)-c, adbSNP:2275707
complement(2516)-t, cdbSNP:143476893
complement(2614)-g, adbSNP:115277486
complement(2655..2656)-, gdbSNP:35632429
complement(2757)-t, cdbSNP:2275706
complement(2782..2783)-, aadbSNP:3831345
complement(2789)-g, adbSNP:11810214
complement(2790)-t, cdbSNP:115551730
complement(2797)-, gdbSNP:59755757
complement(2830)-g, adbSNP:180746790
Gene SymbolSLC30A10
Gene SynonymHMDPC; ZnT-10; ZNT10; ZNT8; ZRC1
Chromosome1
Locus Map1q41
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_018713 Homo sapiens solute carrier family 30, member 10 (SLC30A10), transcript variant 1, mRNA. On-demand TBD TBD
Title Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis .
Author Bosomworth,H.J., Thornton,J.K., Coneyworth,L.J., Ford,D. and Valentine,R.A.
Journal Metallomics 4 (8), 771-779 (2012)
Title Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man .
Author Tuschl,K., Clayton,P.T., Gospe,S.M. Jr., Gulab,S., Ibrahim,S., Singhi,P., Aulakh,R., Ribeiro,R.T., Barsottini,O.G., Zaki,M.S., Del Rosario,M.L., Dyack,S., Price,V., Rideout,A., Gordon,K., Wevers,R.A., Chong,W.K. and Mills,P.B.
Journal Am. J. Hum. Genet. 90 (3), 457-466 (2012)
Title Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease .
Author Quadri,M., Federico,A., Zhao,T., Breedveld,G.J., Battisti,C., Delnooz,C., Severijnen,L.A., Di Toro Mammarella,L., Mignarri,A., Monti,L., Sanna,A., Lu,P., Punzo,F., Cossu,G., Willemsen,R., Rasi,F., Oostra,B.A., van de Warrenburg,B.P. and Bonifati,V.
Journal Am. J. Hum. Genet. 90 (3), 467-477 (2012)
Title Polymorphisms in mitochondrial genes and prostate cancer risk .
Author Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
Journal Cancer Epidemiol. Biomarkers Prev. 17 (12), 3558-3566 (2008)
Title In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression .
Author Seve,M., Chimienti,F., Devergnas,S. and Favier,A.
Journal BMC Genomics 5 (1), 32 (2004)


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