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CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Homo sapiens (human)]

Gene Symbol CLN6
Entrez Gene ID 54982
Full Name ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Synonyms CLN4A, HsT18960, nclf
General protein information
Preferred Names
ceroid-lipofuscinosis neuronal protein 6
Names
ceroid-lipofuscinosis neuronal protein 6
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q23

Summary This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. lac of sum
Disorder MIM:

606725

Disorder Html: Ceroid-lipofuscinosis, neuronal-6, variant late infantile, 601780
CloneID RefSeq Accession Definition **Vector *Turnaround time Price
OHu26286 NM_017882 Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. pcDNA3.1-C-(k)DYK In stock 5-7 Starting from $99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1-C-(k)DYK after clone is added to cart.



CloneID OHu26286D
Sequence Information ORF Nucleotide Sequence (Length: 936bp)
Protein sequence
SNP
Vector pcDNA3.1-C-(k)DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1-C-(k)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product ceroid-lipofuscinosis neuronal protein 6
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM149330.1, AK027604.1, BC013130.1, CN427564.1, BC010849.1 and CA446197.1. This sequence is a reference standard in the RefSeqGene project. On Oct 17, 2008 this sequence version replaced gi:8923531. Summary: This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK000568.1, AK027604.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA
The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.
RefSeqNP_060352.1
CDS159..1094
Misc Feature(1)240..1088(+)
Misc Feature(2)249..251(+)
Misc Feature(3)249..251(+)
Misc Feature(4)324..386(+)
Misc Feature(5)399..461(+)
Misc Feature(6)489..551(+)
Misc Feature(7)693..755(+)
Misc Feature(8)768..830(+)
Misc Feature(9)831..893(+)
Misc Feature(10)936..998(+)
Exon (1)1..241
Gene:CLN6
Gene Synonym:
Exon (2)242..356
Gene:CLN6
Gene Synonym:
Exon (3)357..455
Gene:CLN6
Gene Synonym:
Exon (4)456..644
Gene:CLN6
Gene Synonym:
Exon (5)645..700
Gene:CLN6
Gene Synonym:
Exon (6)701..823
Gene:CLN6
Gene Synonym:
Exon (7)824..2242
Gene:CLN6
Gene Synonym:
Translation
Position Chain Variation Link
48 48 c, t dbSNP:572493152
58 58 a, g dbSNP:555985698
121 121 c, t dbSNP:756496671
124 124 c, t dbSNP:748664135
136 136 a, g dbSNP:536088577
138 138 c, t dbSNP:755560864
163 163 a, g dbSNP:3743088
165 165 -, g dbSNP:786205065
175 175 c, g dbSNP:154774636
192 192 a, g dbSNP:112239768
193 193 c, t dbSNP:539756492
200 200 a, c dbSNP:373776911
207 207 a, g dbSNP:763944821
211 211 c, t dbSNP:547125345
222 222 g, t dbSNP:527373013
230 230 c, t dbSNP:767394326
247 247 c, g dbSNP:753497587
251 251 c, t dbSNP:376510900
252 252 c, g dbSNP:369041224
257 257 c, t dbSNP:752449801
258 258 a, g dbSNP:146198681
260 260 c, t dbSNP:759413102
261 261 a, g dbSNP:533231370
267 267 c, g dbSNP:766479556
271 271 c, t dbSNP:376688261
273 273 c, g, t dbSNP:142260866
274 274 a, g dbSNP:779456928
277 277 a, c, t dbSNP:769199442
283 283 c, t dbSNP:747511534
285 285 a, t dbSNP:780463888
293 293 c, t dbSNP:374577694
294 294 a, c, g dbSNP:147623032
297 297 c, t dbSNP:154774635
299 299 c, g, t dbSNP:752361718
308 308 c, g dbSNP:154774640
316 316 c, t dbSNP:780955024
317 317 a, g dbSNP:377148534
343 343 a, g dbSNP:751486476
348 348 a, g dbSNP:766280255
353 353 -, c dbSNP:764463819
357 357 c, g dbSNP:759935979
358 358 c, t dbSNP:154774633
362 362 a, g dbSNP:774960579
366 366 c, t dbSNP:769286184
367 367 c, t dbSNP:747711900
371 371 a, c, g dbSNP:146980624
372 372 a, c, g, t dbSNP:104894483
379 379 g, t dbSNP:199658226
383 383 a, c, g dbSNP:544291935
388 388 a, c, g dbSNP:776974644
389 389 c, g dbSNP:154774641
395 395 c, t dbSNP:764301084
397 397 c, g dbSNP:756241175
405 405 c, g dbSNP:752816745
406 406 a, g dbSNP:753011260
409 409 a, g dbSNP:767741029
413 413 c, g dbSNP:545955828
417 417 a, g dbSNP:532180601
424 424 a, g dbSNP:766809818
428 428 c, t dbSNP:145247814
429 429 -, aacg dbSNP:786205067
429 429 a, g dbSNP:140519790
436 436 c, t dbSNP:150001589
437 437 a, g dbSNP:746613593
440 440 a, c dbSNP:139261571
454 454 a, g dbSNP:146782642
459 459 a, g dbSNP:774238261
465 465 c, t dbSNP:201095412
466 466 a, g dbSNP:154774634
469 469 a, c dbSNP:777921628
472 472 c, t dbSNP:769747737
474 474 -, c dbSNP:397515352
474 474 c, t dbSNP:202226970
475 475 a, g dbSNP:781133812
479 479 c, t dbSNP:755184214
486 486 c, t dbSNP:143928329
487 487 g, t dbSNP:140179213
496 496 c, t dbSNP:758830997
497 497 a, g dbSNP:146135801
500 500 c, t dbSNP:765719755
501 501 a, g dbSNP:762232673
508 508 g, t dbSNP:752212030
513 513 a, c, g dbSNP:759241838
515 515 c, g dbSNP:141950483
521 521 c, g, t dbSNP:148547876
526 526 a, g dbSNP:104894484
531 531 a, g dbSNP:772893554
553 553 -, ct dbSNP:774543080
555 555 -, gt dbSNP:766493088
565 565 a, g dbSNP:769701646
569 569 c, g dbSNP:748062705
577 577 g, t dbSNP:781313960
584 584 a, c dbSNP:768766915
603 603 c, t dbSNP:747229909
604 604 a, g dbSNP:154774638
618 618 -, atc dbSNP:121908080
618 618 a, g dbSNP:758634306
635 635 a, g dbSNP:370811678
636 636 a, g dbSNP:779177033
640 640 c, t dbSNP:757734645
642 642 c, t dbSNP:754350658
647 647 c, t dbSNP:748682605
648 648 c, g dbSNP:779685727
653 653 c, t dbSNP:757916285
656 656 -, t dbSNP:762902907
667 667 a, g dbSNP:750081097
669 669 -, tat dbSNP:121908079
674 674 c, t dbSNP:547002745
677 677 c, t dbSNP:756942559
680 680 a, g dbSNP:753538013
692 692 c, t dbSNP:763901402
704 704 c, t dbSNP:751550252
705 705 a, g dbSNP:766500060
717 717 c, t dbSNP:764670832
721 721 c, t dbSNP:763059017
722 722 a, c, t dbSNP:371326037
725 725 c, t dbSNP:762214934
739 739 g, t dbSNP:777142645
740 740 c, t dbSNP:769007090
741 741 a, g dbSNP:747575187
743 743 c, t dbSNP:144507672
746 746 c, g dbSNP:770515770
750 750 a, t dbSNP:748936780
751 751 c, g dbSNP:777459938
755 755 a, c, g dbSNP:368546281
759 759 a, g dbSNP:587780316
789 789 c, t dbSNP:754820495
792 792 c, t dbSNP:751562146
793 793 c, t dbSNP:766335298
794 794 c, t dbSNP:758612277
795 795 c, t dbSNP:750548623
798 798 a, g dbSNP:765491294
800 800 a, g dbSNP:762159854
820 820 a, c, g dbSNP:764571295
821 821 c, g dbSNP:104894486
827 827 c, t dbSNP:374271754
828 828 c, t dbSNP:559620662
830 830 a, g dbSNP:368443679
833 833 c, t dbSNP:769339144
834 834 a, c dbSNP:761419712
836 836 a, c, t dbSNP:374744816
837 837 a, g dbSNP:746753722
868 868 c, t dbSNP:779750025
870 870 a, c, t dbSNP:154774637
872 872 c, t dbSNP:772090270
875 875 c, t dbSNP:745850620
876 876 a, g dbSNP:779105796
878 878 c, t dbSNP:757481683
879 879 a, g dbSNP:753994750
881 881 g, t dbSNP:149262877
886 886 c, t dbSNP:767164948
890 890 c, t dbSNP:540227628
891 891 a, g, t dbSNP:377192977
898 898 a, c dbSNP:767889707
899 899 c, t dbSNP:140653271
907 907 a, g dbSNP:554594996
908 908 c, t dbSNP:537994561
912 912 c, t dbSNP:145746878
913 913 a, g dbSNP:374681194
925 925 a, g dbSNP:143781303
926 926 c, g dbSNP:760271120
927 927 a, g dbSNP:151295143
933 933 a, g dbSNP:150363441
947 947 c, t dbSNP:558758367
950 950 c, t dbSNP:779052964
952 952 -, cct dbSNP:768422260
952 952 c, t dbSNP:771007065
956 956 c, t dbSNP:140319056
957 957 a, g dbSNP:374613712
958 958 c, t dbSNP:756310256
963 963 a, c dbSNP:752910503
968 968 c, g dbSNP:183399390
972 972 c, t dbSNP:755397770
979 979 a, c, t dbSNP:202012876
980 980 a, g dbSNP:151186473
987 987 -, gtcgcctgg dbSNP:794729220
989 989 c, t dbSNP:753344266
990 990 a, g dbSNP:143728911
991 991 c, t dbSNP:760345410
998 998 a, g dbSNP:148949069
1003 1003 a, c dbSNP:767409056
1006 1006 a, t dbSNP:759348089
1008 1008 c, t dbSNP:369715206
1028 1028 c, t dbSNP:774291260
1030 1030 c, t dbSNP:373652272
1031 1031 a, g, t dbSNP:567275786
1032 1032 g, t dbSNP:769801040
1043 1043 c, t dbSNP:374990526
1044 1044 a, g dbSNP:781449103
1046 1046 c, t dbSNP:755203312
1048 1048 -, c dbSNP:154774639
1049 1049 c, t dbSNP:747337816
1052 1052 a, g dbSNP:780421624
1054 1054 c, t dbSNP:758921701
1056 1056 c, t dbSNP:750937323
1066 1066 a, g dbSNP:564353601
1070 1070 c, t dbSNP:201330867
1071 1071 a, c, t dbSNP:202136006
1077 1077 a, g dbSNP:146801142
1081 1081 c, g dbSNP:143578698
1082 1082 c, t dbSNP:774237925
1083 1083 a, c, g dbSNP:762916725
1086 1086 c, t dbSNP:773087251
1087 1087 a, g dbSNP:769900670
1093 1093 a, g dbSNP:748166231
1116 1116 c, t dbSNP:776693553
1117 1117 a, g dbSNP:768820177
1120 1120 c, t dbSNP:747282966
1121 1121 c, t dbSNP:780439427
1124 1124 g, t dbSNP:758756489
1127 1127 a, g dbSNP:746373221
1129 1129 a, g dbSNP:779232100
1132 1132 a, g dbSNP:757788122
1133 1133 a, g dbSNP:752212980
1135 1135 a, g dbSNP:551259455
1136 1136 g, t dbSNP:754655363
1139 1139 a, g dbSNP:751297058
1146 1146 -, a dbSNP:35529212
1163 1163 g, t dbSNP:761969677
1168 1168 c, g dbSNP:528304232
1169 1169 c, g dbSNP:57058289
1203 1203 a, g dbSNP:79572748
1225 1225 g, t dbSNP:556392570
1227 1227 a, g dbSNP:374330147
1234 1234 -, cgtg dbSNP:754855292
1234 1234 -, gt, gtgtgt dbSNP:201282122
1235 1235 -, gtgt dbSNP:3837692
1235 1235 -, gt dbSNP:67554265
1235 1235 a, g dbSNP:538713768
1236 1236 -, gg dbSNP:752047183
1240 1240 -, tgtg dbSNP:141886537
1244 1244 -, tg dbSNP:140026796
1246 1246 -, tgtg dbSNP:147451294
1249 1249 -, gtgt dbSNP:748086627
1250 1250 -, gt, gtgt dbSNP:765543395
1251 1251 -, gtgt dbSNP:780072735
1253 1253 -, gtct dbSNP:538559308
1254 1254 -, gt, gtgtgt, gtgtgtgt dbSNP:138882836
1255 1255 c, g dbSNP:201508256
1304 1304 a, g dbSNP:574486703
1353 1353 a, g dbSNP:560984963
1375 1375 a, g dbSNP:765873421
1378 1378 c, t dbSNP:536039114
1381 1381 c, t dbSNP:148629656
1406 1406 c, t dbSNP:747144655
1421 1421 c, t dbSNP:575364165
1429 1429 c, t dbSNP:775946491
1435 1435 c, t dbSNP:573459781
1487 1487 a, g dbSNP:114833125
1521 1521 g, t dbSNP:371015093
1526 1526 c, t dbSNP:369544907
1529 1529 c, g dbSNP:147171499
1542 1542 c, t dbSNP:573395697
1564 1564 c, t dbSNP:565006193
1573 1573 a, g dbSNP:537001109
1575 1575 g, t dbSNP:746416658
1639 1639 c, g dbSNP:567261598
1733 1733 c, g dbSNP:779374665
1740 1740 c, g dbSNP:144976448
1742 1742 a, g dbSNP:187120286
1749 1749 c, t dbSNP:571329883
1761 1761 a, c, g dbSNP:111879561
1784 1784 a, g dbSNP:8033190
1800 1800 c, t dbSNP:183475561
1819 1819 c, t dbSNP:369225795
1856 1856 c, t dbSNP:529181470
1897 1897 a, g dbSNP:752248426
1898 1898 -, gaa dbSNP:758295941
1898 1898 a, g dbSNP:767384917
1904 1904 c, t dbSNP:560922906
1909 1909 c, t dbSNP:544174688
1911 1911 c, t dbSNP:8142
1930 1930 a, g dbSNP:371702565
1940 1940 a, c dbSNP:139463313
1967 1967 a, g, t dbSNP:545489302
1971 1971 a, g dbSNP:573355132
1976 1976 c, t dbSNP:766413849
2028 2028 g, t dbSNP:114551417
2046 2046 g, t dbSNP:368689049
2085 2085 a, c dbSNP:537819492
2094 2094 -, a dbSNP:71455583
2109 2109 c, t dbSNP:6494720
2116 2116 g, t dbSNP:557701838
2117 2117 -, g dbSNP:141489068
2117 2117 a, g dbSNP:760989550
2145 2145 a, g dbSNP:529601425
2162 2162 c, t dbSNP:780713758
2167 2167 a, g dbSNP:537003973
2197 2197 a, g dbSNP:147362516
2203 2203 a, g dbSNP:560713030
2229 2229 a, g dbSNP:11166
2233 2233 a, c dbSNP:377239919
2234 2234 c, t dbSNP:189721599

Target ORF information:

RefSeq Version NM_017882
Organism Homo sapiens (human)
Definition Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1-C-(k)DYK
NM_017882

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
ATGGAGGCGA CGCGGAGGCG GCAGCACCTG GGAGCGACGG GCGGCCCAGG CGCGCAGCTG 
GGCGCCTCCT TCCTGCAGGC CAGGCATGGC TCTGTGAGCG CTGATGAGGC TGCCCGCACG
GCTCCCTTCC ACCTCGACCT CTGGTTCTAC TTCACACTGC AGAACTGGGT TCTGGACTTT
GGGCGTCCCA TTGCCATGCT GGTATTCCCT CTCGAGTGGT TTCCACTCAA CAAGCCCAGT
GTTGGGGACT ACTTCCACAT GGCCTACAAC GTCATCACGC CCTTTCTCTT GCTCAAGCTC
ATCGAGCGGT CCCCCCGCAC CCTGCCACGC TCCATCACGT ACGTGAGCAT CATCATCTTC
ATCATGGGTG CCAGCATCCA CCTGGTGGGT GACTCTGTCA ACCACCGCCT GCTCTTCAGT
GGCTACCAGC ACCACCTGTC TGTCCGTGAG AACCCCATCA TCAAGAATCT CAAGCCGGAG
ACGCTGATCG ACTCCTTTGA GCTGCTCTAC TATTATGATG AGTACCTGGG TCACTGCATG
TGGTACATCC CCTTCTTCCT CATCCTCTTC ATGTACTTCA GCGGCTGCTT TACTGCCTCT
AAAGCTGAGA GCTTGATTCC AGGGCCTGCC CTGCTCCTGG TGGCACCCAG TGGCCTGTAC
TACTGGTACC TGGTCACCGA GGGCCAGATC TTCATCCTCT TCATCTTCAC CTTCTTCGCC
ATGCTGGCCC TCGTCCTGCA CCAGAAGCGC AAGCGCCTCT TCCTGGACAG CAACGGCCTC
TTCCTCTTCT CCTCCTTCGC ACTGACCCTC TTGCTTGTGG CGCTCTGGGT CGCCTGGCTG
TGGAATGACC CTGTTCTCAG GAAGAAGTAC CCGGGTGTCA TCTACGTCCC TGAGCCCTGG
GCTTTCTACA CCCTTCACGT CAGCAGTCGG CACTGA

The stop codons will be deleted if pcDNA3.1-C-(k)DYK vector is selected.