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FXN cDNA ORF clone, Homo sapiens (human)

Gene Symbol FXN
Entrez Gene ID 2395
Full Name frataxin
Synonyms CyaY, FA, FARR, FRDA, X25
General protein information
Preferred Names
frataxin, mitochondrial
Names
frataxin, mitochondrial
Friedreich ataxia protein
NP_000135.2
NP_001155178.1
NP_852090.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q21.11

Summary This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. lac of sum
Disorder MIM:

606829

Disorder Html: Friedreich ataxia, 229300 (3); Friedreich ataxia with retained





The following FXN gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the FXN cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu22988 NM_000144 Homo sapiens frataxin (FXN), transcript variant 1, mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$69.30
$99.00
OHu22634 NM_181425 Homo sapiens frataxin (FXN), transcript variant 2, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $99.00
OHu22696 NM_001161706 Homo sapiens frataxin (FXN), transcript variant 3, mRNA. pcDNA3.1+/C-(K)DYK or customized vector 7-9 $99.00

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


CloneID OHu22988
Accession Version NM_000144.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 633bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product frataxin, mitochondrial isoform 1 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, U43747.1 and BC023633.2. This sequence is a reference standard in the RefSeqGene project. On Jun 11, 2009 this sequence version replaced gi:31742514. Summary: This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. Transcript Variant: This variant (1) encodes the longer isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BC023633.2, U43747.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

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

RefSeqNP_000135.2
CDS221..853
Misc Feature(1)113..115(+)
Misc Feature(2)488..820(+)
Misc Feature(3)494..592(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..702
Gene:FXN
Gene Synonym:
Exon (5)703..7168
Gene:FXN
Gene Synonym:
Translation
Position Chain Variation Link
17 17 a, g dbSNP:73647059
129 129 c, t dbSNP:536839594
136 136 a, g dbSNP:558379641
166 166 a, g dbSNP:570630585
177 177 c, g dbSNP:777612392
199 199 a, c dbSNP:748978397
211 211 c, t dbSNP:770717563
214 214 a, g dbSNP:145006100
221 221 a, c dbSNP:147643987
222 222 c, t dbSNP:142133355
222 222 -, t dbSNP:149724959
223 223 a, g, t dbSNP:104894108
229 229 a, t dbSNP:772115386
231 231 -, tc dbSNP:143232208
243 243 c, g dbSNP:775586060
261 261 a, c dbSNP:761236678
269 269 -, gcccg dbSNP:762595005
274 274 -, g dbSNP:763799314
274 274 a, g dbSNP:2481598
287 287 a, g dbSNP:777206398
288 288 c, t dbSNP:572324212
296 296 a, c dbSNP:536676174
307 307 a, g dbSNP:751237760
310 310 a, g dbSNP:759307044
314 314 c, g dbSNP:555289797
317 317 g, t dbSNP:767135118
320 320 -, g dbSNP:138837292
324 324 -, c dbSNP:140510894
332 332 a, g dbSNP:576852565
338 338 -, c dbSNP:138491271
338 338 c, t dbSNP:145854903
348 348 a, g dbSNP:752207437
351 351 a, c dbSNP:544129099
353 353 a, g dbSNP:755663313
358 358 c, g, t dbSNP:565294240
377 377 -, c dbSNP:141935559
382 382 c, t dbSNP:370984034
390 390 c, t dbSNP:180718803
391 391 a, g dbSNP:767221228
398 398 c, t dbSNP:373519193
399 399 a, g dbSNP:141858334
405 405 c, t dbSNP:763682148
406 406 c, t dbSNP:557830508
420 420 a, g dbSNP:146284289
422 422 gtca, ttg dbSNP:138446138
423 423 g, t dbSNP:778674959
441 441 a, g dbSNP:750274023
446 446 a, g dbSNP:59907886
461 461 a, t dbSNP:555673369
471 471 g, t dbSNP:57777433
472 472 g, t dbSNP:747283339
474 474 c, g dbSNP:57215370
475 475 c, t dbSNP:201496405
488 488 c, t dbSNP:573759998
491 491 c, g dbSNP:373668521
493 493 c, t dbSNP:761242340
498 498 c, t dbSNP:778620538
500 500 a, g dbSNP:766667087
505 505 c, t dbSNP:372775073
506 506 a, g dbSNP:762990650
515 515 a, g dbSNP:766086086
517 517 -, t dbSNP:149284013
519 519 a, c dbSNP:541981554
534 534 c, t dbSNP:267602259
535 535 c, t dbSNP:754746888
537 537 c, g, t dbSNP:104894105
537 537 -, t dbSNP:145045861
560 560 -, gcagacaagccat dbSNP:147211454
561 561 c, t dbSNP:767712381
562 562 a, g dbSNP:752999811
565 565 a, c dbSNP:756215781
570 570 c, t dbSNP:778049381
573 573 a, g dbSNP:749780215
574 574 c, g dbSNP:148698100
576 576 c, t dbSNP:757847415
577 577 a, g dbSNP:147571636
584 584 g, t dbSNP:142157346
589 589 c, t dbSNP:200543562
598 598 a, c dbSNP:746185269
601 601 -, tggg dbSNP:151206121
604 604 a, g dbSNP:774839688
609 609 c, g, t dbSNP:104894107
619 619 c, t dbSNP:774296834
620 620 a, g dbSNP:759441343
624 624 a, g dbSNP:771963647
632 632 a, g dbSNP:775491351
635 635 g, t dbSNP:760965156
636 636 a, t dbSNP:764352477
638 638 c, t dbSNP:754011132
646 646 c, t dbSNP:761909026
658 658 c, g dbSNP:146818694
663 663 a, g dbSNP:140472905
664 664 a, g dbSNP:765250715
666 666 c, t dbSNP:551991546
667 667 a, g dbSNP:151193551
678 678 a, g dbSNP:77781994
679 679 a, c dbSNP:780387020
680 680 a, t dbSNP:104894106
683 683 c, t dbSNP:138471431
685 685 a, g dbSNP:149229839
687 687 c, t dbSNP:143340609
688 688 a, g dbSNP:543209710
692 692 g, t dbSNP:748916855
706 706 a, g, t dbSNP:202038201
713 713 c, t dbSNP:138034837
714 714 a, c, g dbSNP:143396368
730 730 a, g dbSNP:201483490
732 732 a, g dbSNP:781204747
737 737 g, t dbSNP:56214919
744 744 a, t dbSNP:1052201
749 749 c, t dbSNP:747833464
751 751 c, t dbSNP:769666460
752 752 a, g dbSNP:777926714
754 754 -, g dbSNP:35275927
754 754 c, t dbSNP:61754561
757 757 c, t dbSNP:200232902
758 758 a, g dbSNP:774482038
762 762 c, g dbSNP:568327835
764 764 c, t dbSNP:139616452
765 765 a, t dbSNP:149335881
768 768 a, g dbSNP:144610605
777 777 g, t dbSNP:148443992
781 781 c, t dbSNP:772399509
782 782 a, g dbSNP:776068810
787 787 a, g dbSNP:140257842
790 790 c, t dbSNP:764541033
791 791 a, g dbSNP:200532520
797 797 c, g dbSNP:762731436
806 806 a, g dbSNP:765980325
813 813 g, t dbSNP:144104124
815 815 a, g dbSNP:751170542
816 816 a, g dbSNP:754523390
823 823 c, t dbSNP:771841331
825 825 c, g dbSNP:1052195
825 825 c, g dbSNP:555061379
826 826 c, g dbSNP:1052194
830 830 c, g dbSNP:780954419
832 832 a, c dbSNP:752706616
838 838 c, t dbSNP:755842538
839 839 a, g dbSNP:777584849
846 846 a, g dbSNP:74621026
864 864 c, t dbSNP:766673048
865 865 a, g dbSNP:779118774
886 886 a, c dbSNP:369184667
896 896 a, g dbSNP:772220865
903 903 a, g dbSNP:372744040
924 924 c, g dbSNP:1052189
931 931 -, ttg dbSNP:146039377
945 945 -, gtt dbSNP:35195101
945 945 -, gtt dbSNP:529317691
945 945 g, t dbSNP:368805006
949 949 a, t dbSNP:201005872
977 977 c, g dbSNP:1052188
1003 1003 c, g dbSNP:1052187
1007 1007 c, g dbSNP:1052186
1076 1076 c, t dbSNP:143495270
1099 1099 c, t dbSNP:10890
1119 1119 -, c dbSNP:539816192
1200 1200 -, tcttcac dbSNP:371939673
1231 1231 c, g dbSNP:763880866
1247 1247 a, g dbSNP:539688619
1255 1255 a, g dbSNP:182929891
1276 1276 a, g dbSNP:4745577
1287 1287 -, a dbSNP:768211884
1293 1293 a, g dbSNP:58486903
1335 1335 c, t dbSNP:7866878
1336 1336 a, g dbSNP:573517789
1343 1343 c, t dbSNP:544191450
1360 1360 a, c dbSNP:116943766
1385 1385 c, t dbSNP:756261701
1389 1389 a, g dbSNP:548893635
1393 1393 c, t dbSNP:4744806
1409 1409 c, t dbSNP:7857635
1438 1438 c, t dbSNP:549991367
1461 1461 a, g dbSNP:559884502
1475 1475 a, g dbSNP:4744807
1486 1486 c, t dbSNP:4744808
1487 1487 a, g dbSNP:568658206
1493 1493 c, g dbSNP:147141848
1495 1495 c, g dbSNP:746940941
1498 1498 -, tata dbSNP:777010211
1556 1556 a, c dbSNP:533947511
1568 1568 a, g dbSNP:550946139
1591 1591 c, t dbSNP:140256972
1592 1592 a, g dbSNP:768774261
1596 1596 g, t dbSNP:540118382
1616 1616 c, t dbSNP:558406909
1641 1641 -, g dbSNP:34709044
1648 1648 g, t dbSNP:149664725
1651 1651 g, t dbSNP:11145043
1684 1684 a, g dbSNP:144650893
1728 1728 g, t dbSNP:78598719
1755 1755 a, c dbSNP:543899294
1770 1770 c, g dbSNP:556102038
1782 1782 g, t dbSNP:577880779
1802 1802 a, g dbSNP:762522892
1803 1803 a, g dbSNP:766696067
1824 1824 c, g dbSNP:544866196
1845 1845 c, t dbSNP:760020074
1851 1851 a, g dbSNP:190837595
1863 1863 a, g dbSNP:556222145
1877 1877 a, g dbSNP:756173478
1895 1895 -, t dbSNP:549923791
1921 1921 a, t dbSNP:112046543
1925 1925 a, g dbSNP:113833390
1952 1952 a, g dbSNP:17060788
2000 2000 c, t dbSNP:183393884
2001 2001 a, g dbSNP:17847101
2044 2044 a, g dbSNP:569206072
2047 2047 a, g dbSNP:533683264
2070 2070 g, t dbSNP:552064317
2133 2133 a, g dbSNP:17847102
2135 2135 a, g dbSNP:565448724
2150 2150 c, t dbSNP:142635037
2168 2168 c, t dbSNP:4745578
2179 2179 a, g dbSNP:4744810
2190 2190 c, t dbSNP:192261472
2191 2191 a, g dbSNP:768528021
2194 2194 c, t dbSNP:555900267
2220 2220 a, g dbSNP:2871218
2230 2230 a, g dbSNP:544904207
2287 2287 a, c dbSNP:36187644
2288 2288 c, t dbSNP:201971361
2290 2290 -, aaa dbSNP:386414980
2291 2291 -, aaa dbSNP:3066311
2291 2291 a, t dbSNP:113265426
2292 2292 -, ata dbSNP:773777893
2292 2292 -, aaa dbSNP:386361262
2293 2293 a, t dbSNP:113836356
2326 2326 c, t dbSNP:182809280
2352 2352 a, g dbSNP:572002477
2378 2378 c, t dbSNP:542449121
2386 2386 g, t dbSNP:11145047
2443 2443 a, t dbSNP:188279964
2474 2474 c, t dbSNP:750025330
2489 2489 g, t dbSNP:372927277
2492 2492 a, g dbSNP:544660354
2494 2494 a, g dbSNP:562565128
2502 2502 a, g dbSNP:537684376
2530 2530 c, t dbSNP:116944579
2550 2550 a, g dbSNP:1984004
2554 2554 a, g dbSNP:551798055
2561 2561 g, t dbSNP:374295966
2579 2579 c, t dbSNP:551511302
2588 2588 a, g dbSNP:11145050
2589 2589 c, t dbSNP:113375157
2590 2590 a, g dbSNP:1888334
2597 2597 c, t dbSNP:547488489
2611 2611 -, a dbSNP:34933249
2623 2623 -, aag dbSNP:200175861
2623 2623 -, ag dbSNP:770749218
2624 2624 -, ag dbSNP:139068140
2625 2625 -, gg dbSNP:763458454
2625 2625 a, g dbSNP:76529976
2626 2626 -, g dbSNP:759686954
2640 2640 a, g dbSNP:1984003
2772 2772 c, t dbSNP:759856741
2799 2799 c, t dbSNP:767895442
2808 2808 c, t dbSNP:1984002
2833 2833 a, g dbSNP:201746880
2834 2834 -, a dbSNP:11432103
2834 2834 a, g dbSNP:199749133
2848 2848 c, t dbSNP:761092024
2849 2849 -, taa dbSNP:572288477
2866 2866 a, c dbSNP:556175198
2880 2880 g, t dbSNP:73647069
2931 2931 c, t dbSNP:4745580
2938 2938 a, g dbSNP:371114988
2942 2942 a, g dbSNP:553338069
2992 2992 c, t dbSNP:765595341
3010 3010 a, g dbSNP:572039496
3012 3012 g, t dbSNP:192217050
3017 3017 -, t dbSNP:35464439
3055 3055 a, g dbSNP:4745581
3138 3138 g, t dbSNP:557885334
3147 3147 -, g dbSNP:534914330
3157 3157 c, g dbSNP:146574092
3187 3187 c, t dbSNP:781147870
3319 3319 caagtgt, tgagtgg dbSNP:386734759
3319 3319 ca, tg dbSNP:386734758
3319 3319 c, t dbSNP:4745582
3320 3320 a, g dbSNP:150186989
3325 3325 g, t dbSNP:7875272
3332 3332 g, t dbSNP:545445918
3357 3357 c, t dbSNP:4745583
3378 3378 a, g dbSNP:147094532
3403 3403 c, t dbSNP:184401443
3418 3418 a, g dbSNP:115528408
3421 3421 c, t dbSNP:7865854
3432 3432 a, t dbSNP:550096130
3449 3449 a, g dbSNP:571046012
3467 3467 c, t dbSNP:745889823
3481 3481 c, g dbSNP:565054764
3532 3532 c, t dbSNP:538326728
3545 3545 c, t dbSNP:7866067
3550 3550 -, aaat dbSNP:112623808
3551 3551 -, aaataaat dbSNP:557402105
3551 3551 -, aaat dbSNP:759765061
3554 3554 -, aaat dbSNP:765327959
3558 3558 -, aaat, aaataaat, taaa dbSNP:386414981
3573 3573 -, taaa dbSNP:56827613
3586 3586 a, g dbSNP:13297608
3587 3587 c, t dbSNP:770461831
3600 3600 a, c dbSNP:369586554
3627 3627 a, t dbSNP:7875693
3630 3630 a, g dbSNP:745536380
3657 3657 g, t dbSNP:7849347
3676 3676 a, g dbSNP:7874989
3710 3710 a, g dbSNP:761232462
3739 3739 a, t dbSNP:77364069
3750 3750 g, t dbSNP:143536099
3784 3784 c, g dbSNP:776742257
3798 3798 a, g dbSNP:747297688
3826 3826 c, t dbSNP:768315920
3827 3827 -, ct dbSNP:753646932
3859 3859 g, t dbSNP:6560541
3888 3888 -, aa dbSNP:569838741
3888 3888 c, t dbSNP:765428828
3891 3891 -, aa dbSNP:150169295
3913 3913 c, t dbSNP:545482993
3920 3920 g, t dbSNP:370051686
3949 3949 c, t dbSNP:572355668
3985 3985 -, g dbSNP:539089856
4005 4005 a, t dbSNP:542650633
4047 4047 c, t dbSNP:188391059
4109 4109 -, tat dbSNP:143564618
4136 4136 a, g dbSNP:531893442
4138 4138 a, c dbSNP:7875564
4148 4148 c, g dbSNP:769791923
4149 4149 a, g dbSNP:7875659
4169 4169 c, g dbSNP:752489512
4190 4190 a, g dbSNP:192507473
4205 4205 c, g dbSNP:7858249
4208 4208 -, tg dbSNP:750317657
4236 4236 c, t dbSNP:56272226
4252 4252 c, g dbSNP:551207990
4299 4299 c, t dbSNP:765949363
4309 4309 -, ttt, tttt dbSNP:758447440
4309 4309 -, t dbSNP:11310316
4310 4310 -, ttg dbSNP:546428624
4311 4311 g, t dbSNP:111431879
4320 4320 -, tta dbSNP:147753767
4322 4322 -, ta, tta, ttta dbSNP:59923017
4322 4322 a, t dbSNP:63389061
4322 4322 -, t dbSNP:11327946
4323 4323 -, tta dbSNP:72580561
4329 4329 g, t dbSNP:569961039
4379 4379 a, g dbSNP:575143823
4411 4411 a, g dbSNP:536918708
4414 4414 a, g dbSNP:10781379
4429 4429 a, g dbSNP:745515888
4480 4480 c, t dbSNP:759287478
4532 4532 a, g dbSNP:780445803
4564 4564 c, t dbSNP:747375804
4593 4593 c, t dbSNP:556165918
4658 4658 a, g dbSNP:147177647
4670 4670 c, t dbSNP:148219670
4676 4676 c, t dbSNP:776953881
4703 4703 a, t dbSNP:554350828
4768 4768 a, g dbSNP:762423115
4772 4772 a, g dbSNP:545123370
4795 4795 c, g, t dbSNP:56289301
4818 4818 a, g dbSNP:113695176
4823 4823 -, c dbSNP:35067863
4829 4829 a, c dbSNP:554646816
4842 4842 c, t dbSNP:141166099
4843 4843 a, g dbSNP:150714901
4858 4858 a, c dbSNP:72724260
4863 4863 a, c dbSNP:763251375
4923 4923 a, g dbSNP:527521799
4930 4930 a, g dbSNP:185073365
4974 4974 c, t dbSNP:541223608
4977 4977 c, g, t dbSNP:188899351
4978 4978 a, g dbSNP:760340650
4980 4980 c, g dbSNP:763967317
5000 5000 a, c dbSNP:548189845
5005 5005 -, a dbSNP:34235465
5013 5013 c, t dbSNP:569515511
5037 5037 a, g dbSNP:571014160
5040 5040 c, t dbSNP:530843434
5045 5045 a, g dbSNP:757256914
5068 5068 c, t dbSNP:764714873
5069 5069 a, g dbSNP:552453290
5073 5073 -, g dbSNP:34356733
5091 5091 c, t dbSNP:141798960
5092 5092 a, g dbSNP:11145061
5110 5110 a, g dbSNP:12554971
5129 5129 c, t dbSNP:566191092
5138 5138 a, g dbSNP:536322979
5163 5163 c, t dbSNP:181918026
5164 5164 c, t dbSNP:746694402
5165 5165 c, t dbSNP:529911504
5184 5184 c, t dbSNP:576320282
5194 5194 a, g dbSNP:543710417
5255 5255 c, g dbSNP:7874105
5283 5283 a, g dbSNP:577112663
5289 5289 a, c dbSNP:541263315
5312 5312 g, t dbSNP:11145063
5351 5351 g, t dbSNP:532384045
5361 5361 c, t dbSNP:529810877
5368 5368 c, t dbSNP:115046450
5388 5388 -, a dbSNP:748529752
5412 5412 a, g dbSNP:563298308
5447 5447 -, t dbSNP:35383713
5448 5448 a, t dbSNP:552689170
5461 5461 a, c dbSNP:530564724
5505 5505 a, g dbSNP:184628569
5510 5510 c, t dbSNP:773400184
5528 5528 g, t dbSNP:570792069
5550 5550 c, g dbSNP:528372208
5560 5560 a, g dbSNP:10869821
5582 5582 g, t dbSNP:79687055
5598 5598 -, ctc dbSNP:747897246
5634 5634 g, t dbSNP:536762274
5650 5650 c, t dbSNP:548349099
5655 5655 a, c dbSNP:60353555
5666 5666 c, t dbSNP:555152684
5706 5706 c, t dbSNP:759812181
5749 5749 a, g dbSNP:189899104
5781 5781 a, g dbSNP:558513400
5805 5805 a, g dbSNP:773248460
5850 5850 a, g dbSNP:577147048
5856 5856 a, t dbSNP:34267525
5878 5878 -, ggcc dbSNP:199653475
5880 5880 c, g dbSNP:7848466
5890 5890 a, g dbSNP:761716704
5893 5893 c, t dbSNP:770331392
5913 5913 c, t dbSNP:574888268
5914 5914 a, c, g dbSNP:367869318
5973 5973 a, g dbSNP:575394221
5986 5986 a, t dbSNP:11145068
5987 5987 c, g dbSNP:151240103
5997 5997 a, g dbSNP:767098170
5999 5999 c, t dbSNP:11145069
6003 6003 -, aa dbSNP:60780359
6021 6021 a, g dbSNP:35104955
6037 6037 a, g dbSNP:11145070
6049 6049 c, t dbSNP:529126514
6072 6072 a, g dbSNP:114535854
6090 6090 a, g dbSNP:542786671
6102 6102 a, g dbSNP:181420522
6119 6119 a, c dbSNP:11145072
6121 6121 c, t dbSNP:552167626
6122 6122 a, g dbSNP:80012734
6128 6128 -, ta dbSNP:763405256
6145 6145 c, t dbSNP:185002782
6254 6254 c, g dbSNP:10869823
6272 6272 a, t dbSNP:553433126
6292 6292 g, t dbSNP:756655062
6303 6303 c, g dbSNP:7866579
6318 6318 a, t dbSNP:11145073
6359 6359 a, c dbSNP:377312254
6415 6415 a, g dbSNP:12346204
6438 6438 a, g dbSNP:770852732
6442 6442 c, t dbSNP:116391013
6452 6452 c, t dbSNP:575431456
6467 6467 a, g dbSNP:7039631
6490 6490 a, t dbSNP:564080802
6567 6567 a, g dbSNP:572830075
6577 6577 a, g dbSNP:189908213
6592 6592 -, g dbSNP:71500346
6593 6593 cttacc, gcaatct dbSNP:386734760
6593 6593 -, gcaat dbSNP:761663231
6593 6593 c, g dbSNP:561877982
6594 6594 c, t dbSNP:529175496
6595 6595 a, t dbSNP:539957550
6596 6596 a, t dbSNP:562316107
6597 6597 a, t dbSNP:553154609
6597 6597 -, t dbSNP:781519769
6599 6599 -, tacc dbSNP:372755395
6599 6599 c, t dbSNP:573221748
6599 6599 -, t dbSNP:67054076
6622 6622 a, g dbSNP:75329120
6656 6656 c, t dbSNP:7024295
6663 6663 a, g dbSNP:772385458
6681 6681 c, t dbSNP:367866592
6699 6699 a, g dbSNP:79499353
6709 6709 a, g dbSNP:568686959
6726 6726 a, t dbSNP:536118023
6736 6736 c, g dbSNP:557603458
6740 6740 a, g dbSNP:569435256
6754 6754 a, g dbSNP:765041538
6776 6776 -, a dbSNP:201904147
6777 6777 -, t dbSNP:11301594
6780 6780 caca, tcacg dbSNP:71507115
6784 6784 a, g dbSNP:57561255
6813 6813 c, t dbSNP:557932661
6837 6837 g, t dbSNP:572968489
6851 6851 a, g dbSNP:147104515
6879 6879 g, t dbSNP:555323842
6899 6899 c, t dbSNP:147743430
6941 6941 c, t dbSNP:181855141
6952 6952 c, t dbSNP:1045632
7008 7008 c, g dbSNP:533003127
7012 7012 c, g dbSNP:762949523
7014 7014 g, t dbSNP:765798124
7040 7040 a, g dbSNP:544792197
7049 7049 c, t dbSNP:564274782
7068 7068 a, t dbSNP:117140455
7086 7086 c, t dbSNP:374835348
7094 7094 c, t dbSNP:186297986
7116 7116 -, ttataa dbSNP:770833066
7141 7141 g, t dbSNP:116859992

Target ORF information:

RefSeq Version NM_000144
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 1, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000144

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGTGGACCTA AGCGTTATGA CTGGACTGGG AAAAACTGGG TGTACTCCCA CGACGGCGTG
TCCCTCCATG AGCTGCTGGC CGCAGAGCTC ACTAAAGCCT TAAAAACCAA ACTGGACTTG
TCTTCCTTGG CCTATTCCGG AAAAGATGCT TGA

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

CloneID OHu22634
Accession Version NM_181425.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 591bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
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 frataxin, mitochondrial isoform 2 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26, BF058880.1, BC023633.2 and AA232366.1. On Jun 11, 2009 this sequence version replaced gi:31742515. Summary: This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## Transcript exon combination :: BU552829.1, BF058880.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

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

RefSeqNP_852090.1
CDS221..811
Misc Feature(1)113..115(+)
Misc Feature(2)494..592(+)
Misc Feature(3)500..>706(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..710
Gene:FXN
Gene Synonym:
Exon (5)711..7176
Gene:FXN
Gene Synonym:
Translation
Position Chain Variation Link
17 17 a, g dbSNP:73647059
129 129 c, t dbSNP:536839594
136 136 a, g dbSNP:558379641
166 166 a, g dbSNP:570630585
177 177 c, g dbSNP:777612392
199 199 a, c dbSNP:748978397
211 211 c, t dbSNP:770717563
214 214 a, g dbSNP:145006100
221 221 a, c dbSNP:147643987
222 222 c, t dbSNP:142133355
222 222 -, t dbSNP:149724959
223 223 a, g, t dbSNP:104894108
229 229 a, t dbSNP:772115386
231 231 -, tc dbSNP:143232208
243 243 c, g dbSNP:775586060
261 261 a, c dbSNP:761236678
269 269 -, gcccg dbSNP:762595005
274 274 -, g dbSNP:763799314
274 274 a, g dbSNP:2481598
287 287 a, g dbSNP:777206398
288 288 c, t dbSNP:572324212
296 296 a, c dbSNP:536676174
307 307 a, g dbSNP:751237760
310 310 a, g dbSNP:759307044
314 314 c, g dbSNP:555289797
317 317 g, t dbSNP:767135118
320 320 -, g dbSNP:138837292
324 324 -, c dbSNP:140510894
332 332 a, g dbSNP:576852565
338 338 -, c dbSNP:138491271
338 338 c, t dbSNP:145854903
348 348 a, g dbSNP:752207437
351 351 a, c dbSNP:544129099
353 353 a, g dbSNP:755663313
358 358 c, g, t dbSNP:565294240
377 377 -, c dbSNP:141935559
382 382 c, t dbSNP:370984034
390 390 c, t dbSNP:180718803
391 391 a, g dbSNP:767221228
398 398 c, t dbSNP:373519193
399 399 a, g dbSNP:141858334
405 405 c, t dbSNP:763682148
406 406 c, t dbSNP:557830508
420 420 a, g dbSNP:146284289
422 422 gtca, ttg dbSNP:138446138
423 423 g, t dbSNP:778674959
441 441 a, g dbSNP:750274023
446 446 a, g dbSNP:59907886
461 461 a, t dbSNP:555673369
471 471 g, t dbSNP:57777433
472 472 g, t dbSNP:747283339
474 474 c, g dbSNP:57215370
475 475 c, t dbSNP:201496405
488 488 c, t dbSNP:573759998
491 491 c, g dbSNP:373668521
493 493 c, t dbSNP:761242340
498 498 c, t dbSNP:778620538
500 500 a, g dbSNP:766667087
505 505 c, t dbSNP:372775073
506 506 a, g dbSNP:762990650
515 515 a, g dbSNP:766086086
517 517 -, t dbSNP:149284013
519 519 a, c dbSNP:541981554
534 534 c, t dbSNP:267602259
535 535 c, t dbSNP:754746888
537 537 c, g, t dbSNP:104894105
537 537 -, t dbSNP:145045861
560 560 -, gcagacaagccat dbSNP:147211454
561 561 c, t dbSNP:767712381
562 562 a, g dbSNP:752999811
565 565 a, c dbSNP:756215781
570 570 c, t dbSNP:778049381
573 573 a, g dbSNP:749780215
574 574 c, g dbSNP:148698100
576 576 c, t dbSNP:757847415
577 577 a, g dbSNP:147571636
584 584 g, t dbSNP:142157346
589 589 c, t dbSNP:200543562
598 598 a, c dbSNP:746185269
601 601 -, tggg dbSNP:151206121
604 604 a, g dbSNP:774839688
609 609 c, g, t dbSNP:104894107
619 619 c, t dbSNP:774296834
620 620 a, g dbSNP:759441343
624 624 a, g dbSNP:771963647
632 632 a, g dbSNP:775491351
635 635 g, t dbSNP:760965156
636 636 a, t dbSNP:764352477
638 638 c, t dbSNP:754011132
646 646 c, t dbSNP:761909026
658 658 c, g dbSNP:146818694
663 663 a, g dbSNP:140472905
664 664 a, g dbSNP:765250715
666 666 c, t dbSNP:551991546
667 667 a, g dbSNP:151193551
678 678 a, g dbSNP:77781994
679 679 a, c dbSNP:780387020
680 680 a, t dbSNP:104894106
683 683 c, t dbSNP:138471431
685 685 a, g dbSNP:149229839
687 687 c, t dbSNP:143340609
688 688 a, g dbSNP:543209710
692 692 g, t dbSNP:748916855
704 704 g, t dbSNP:141526971
705 705 -, a dbSNP:146948377
705 705 a, g dbSNP:756771078
714 714 a, g, t dbSNP:202038201
721 721 c, t dbSNP:138034837
722 722 a, c, g dbSNP:143396368
738 738 a, g dbSNP:201483490
740 740 a, g dbSNP:781204747
745 745 g, t dbSNP:56214919
752 752 a, t dbSNP:1052201
757 757 c, t dbSNP:747833464
759 759 c, t dbSNP:769666460
760 760 a, g dbSNP:777926714
762 762 -, g dbSNP:35275927
762 762 c, t dbSNP:61754561
765 765 c, t dbSNP:200232902
766 766 a, g dbSNP:774482038
770 770 c, g dbSNP:568327835
772 772 c, t dbSNP:139616452
773 773 a, t dbSNP:149335881
776 776 a, g dbSNP:144610605
785 785 g, t dbSNP:148443992
789 789 c, t dbSNP:772399509
790 790 a, g dbSNP:776068810
795 795 a, g dbSNP:140257842
798 798 c, t dbSNP:764541033
799 799 a, g dbSNP:200532520
805 805 c, g dbSNP:762731436
814 814 a, g dbSNP:765980325
821 821 g, t dbSNP:144104124
823 823 a, g dbSNP:751170542
824 824 a, g dbSNP:754523390
831 831 c, t dbSNP:771841331
833 833 c, g dbSNP:1052195
833 833 c, g dbSNP:555061379
834 834 c, g dbSNP:1052194
838 838 c, g dbSNP:780954419
840 840 a, c dbSNP:752706616
846 846 c, t dbSNP:755842538
847 847 a, g dbSNP:777584849
854 854 a, g dbSNP:74621026
872 872 c, t dbSNP:766673048
873 873 a, g dbSNP:779118774
894 894 a, c dbSNP:369184667
904 904 a, g dbSNP:772220865
911 911 a, g dbSNP:372744040
932 932 c, g dbSNP:1052189
939 939 -, ttg dbSNP:146039377
953 953 -, gtt dbSNP:35195101
953 953 -, gtt dbSNP:529317691
953 953 g, t dbSNP:368805006
957 957 a, t dbSNP:201005872
985 985 c, g dbSNP:1052188
1011 1011 c, g dbSNP:1052187
1015 1015 c, g dbSNP:1052186
1084 1084 c, t dbSNP:143495270
1107 1107 c, t dbSNP:10890
1127 1127 -, c dbSNP:539816192
1208 1208 -, tcttcac dbSNP:371939673
1239 1239 c, g dbSNP:763880866
1255 1255 a, g dbSNP:539688619
1263 1263 a, g dbSNP:182929891
1284 1284 a, g dbSNP:4745577
1295 1295 -, a dbSNP:768211884
1301 1301 a, g dbSNP:58486903
1343 1343 c, t dbSNP:7866878
1344 1344 a, g dbSNP:573517789
1351 1351 c, t dbSNP:544191450
1368 1368 a, c dbSNP:116943766
1393 1393 c, t dbSNP:756261701
1397 1397 a, g dbSNP:548893635
1401 1401 c, t dbSNP:4744806
1417 1417 c, t dbSNP:7857635
1446 1446 c, t dbSNP:549991367
1469 1469 a, g dbSNP:559884502
1483 1483 a, g dbSNP:4744807
1494 1494 c, t dbSNP:4744808
1495 1495 a, g dbSNP:568658206
1501 1501 c, g dbSNP:147141848
1503 1503 c, g dbSNP:746940941
1506 1506 -, tata dbSNP:777010211
1564 1564 a, c dbSNP:533947511
1576 1576 a, g dbSNP:550946139
1599 1599 c, t dbSNP:140256972
1600 1600 a, g dbSNP:768774261
1604 1604 g, t dbSNP:540118382
1624 1624 c, t dbSNP:558406909
1649 1649 -, g dbSNP:34709044
1656 1656 g, t dbSNP:149664725
1659 1659 g, t dbSNP:11145043
1692 1692 a, g dbSNP:144650893
1736 1736 g, t dbSNP:78598719
1763 1763 a, c dbSNP:543899294
1778 1778 c, g dbSNP:556102038
1790 1790 g, t dbSNP:577880779
1810 1810 a, g dbSNP:762522892
1811 1811 a, g dbSNP:766696067
1832 1832 c, g dbSNP:544866196
1853 1853 c, t dbSNP:760020074
1859 1859 a, g dbSNP:190837595
1871 1871 a, g dbSNP:556222145
1885 1885 a, g dbSNP:756173478
1903 1903 -, t dbSNP:549923791
1929 1929 a, t dbSNP:112046543
1933 1933 a, g dbSNP:113833390
1960 1960 a, g dbSNP:17060788
2008 2008 c, t dbSNP:183393884
2009 2009 a, g dbSNP:17847101
2052 2052 a, g dbSNP:569206072
2055 2055 a, g dbSNP:533683264
2078 2078 g, t dbSNP:552064317
2141 2141 a, g dbSNP:17847102
2143 2143 a, g dbSNP:565448724
2158 2158 c, t dbSNP:142635037
2176 2176 c, t dbSNP:4745578
2187 2187 a, g dbSNP:4744810
2198 2198 c, t dbSNP:192261472
2199 2199 a, g dbSNP:768528021
2202 2202 c, t dbSNP:555900267
2228 2228 a, g dbSNP:2871218
2238 2238 a, g dbSNP:544904207
2295 2295 a, c dbSNP:36187644
2296 2296 c, t dbSNP:201971361
2298 2298 -, aaa dbSNP:386414980
2299 2299 -, aaa dbSNP:3066311
2299 2299 a, t dbSNP:113265426
2300 2300 -, ata dbSNP:773777893
2300 2300 -, aaa dbSNP:386361262
2301 2301 a, t dbSNP:113836356
2334 2334 c, t dbSNP:182809280
2360 2360 a, g dbSNP:572002477
2386 2386 c, t dbSNP:542449121
2394 2394 g, t dbSNP:11145047
2451 2451 a, t dbSNP:188279964
2482 2482 c, t dbSNP:750025330
2497 2497 g, t dbSNP:372927277
2500 2500 a, g dbSNP:544660354
2502 2502 a, g dbSNP:562565128
2510 2510 a, g dbSNP:537684376
2538 2538 c, t dbSNP:116944579
2558 2558 a, g dbSNP:1984004
2562 2562 a, g dbSNP:551798055
2569 2569 g, t dbSNP:374295966
2587 2587 c, t dbSNP:551511302
2596 2596 a, g dbSNP:11145050
2597 2597 c, t dbSNP:113375157
2598 2598 a, g dbSNP:1888334
2605 2605 c, t dbSNP:547488489
2619 2619 -, a dbSNP:34933249
2631 2631 -, aag dbSNP:200175861
2631 2631 -, ag dbSNP:770749218
2632 2632 -, ag dbSNP:139068140
2633 2633 -, gg dbSNP:763458454
2633 2633 a, g dbSNP:76529976
2634 2634 -, g dbSNP:759686954
2648 2648 a, g dbSNP:1984003
2780 2780 c, t dbSNP:759856741
2807 2807 c, t dbSNP:767895442
2816 2816 c, t dbSNP:1984002
2841 2841 a, g dbSNP:201746880
2842 2842 -, a dbSNP:11432103
2842 2842 a, g dbSNP:199749133
2856 2856 c, t dbSNP:761092024
2857 2857 -, taa dbSNP:572288477
2874 2874 a, c dbSNP:556175198
2888 2888 g, t dbSNP:73647069
2939 2939 c, t dbSNP:4745580
2946 2946 a, g dbSNP:371114988
2950 2950 a, g dbSNP:553338069
3000 3000 c, t dbSNP:765595341
3018 3018 a, g dbSNP:572039496
3020 3020 g, t dbSNP:192217050
3025 3025 -, t dbSNP:35464439
3063 3063 a, g dbSNP:4745581
3146 3146 g, t dbSNP:557885334
3155 3155 -, g dbSNP:534914330
3165 3165 c, g dbSNP:146574092
3195 3195 c, t dbSNP:781147870
3327 3327 caagtgt, tgagtgg dbSNP:386734759
3327 3327 ca, tg dbSNP:386734758
3327 3327 c, t dbSNP:4745582
3328 3328 a, g dbSNP:150186989
3333 3333 g, t dbSNP:7875272
3340 3340 g, t dbSNP:545445918
3365 3365 c, t dbSNP:4745583
3386 3386 a, g dbSNP:147094532
3411 3411 c, t dbSNP:184401443
3426 3426 a, g dbSNP:115528408
3429 3429 c, t dbSNP:7865854
3440 3440 a, t dbSNP:550096130
3457 3457 a, g dbSNP:571046012
3475 3475 c, t dbSNP:745889823
3489 3489 c, g dbSNP:565054764
3540 3540 c, t dbSNP:538326728
3553 3553 c, t dbSNP:7866067
3558 3558 -, aaat dbSNP:112623808
3559 3559 -, aaataaat dbSNP:557402105
3559 3559 -, aaat dbSNP:759765061
3562 3562 -, aaat dbSNP:765327959
3566 3566 -, aaat, aaataaat, taaa dbSNP:386414981
3581 3581 -, taaa dbSNP:56827613
3594 3594 a, g dbSNP:13297608
3595 3595 c, t dbSNP:770461831
3608 3608 a, c dbSNP:369586554
3635 3635 a, t dbSNP:7875693
3638 3638 a, g dbSNP:745536380
3665 3665 g, t dbSNP:7849347
3684 3684 a, g dbSNP:7874989
3718 3718 a, g dbSNP:761232462
3747 3747 a, t dbSNP:77364069
3758 3758 g, t dbSNP:143536099
3792 3792 c, g dbSNP:776742257
3806 3806 a, g dbSNP:747297688
3834 3834 c, t dbSNP:768315920
3835 3835 -, ct dbSNP:753646932
3867 3867 g, t dbSNP:6560541
3896 3896 -, aa dbSNP:569838741
3896 3896 c, t dbSNP:765428828
3899 3899 -, aa dbSNP:150169295
3921 3921 c, t dbSNP:545482993
3928 3928 g, t dbSNP:370051686
3957 3957 c, t dbSNP:572355668
3993 3993 -, g dbSNP:539089856
4013 4013 a, t dbSNP:542650633
4055 4055 c, t dbSNP:188391059
4117 4117 -, tat dbSNP:143564618
4144 4144 a, g dbSNP:531893442
4146 4146 a, c dbSNP:7875564
4156 4156 c, g dbSNP:769791923
4157 4157 a, g dbSNP:7875659
4177 4177 c, g dbSNP:752489512
4198 4198 a, g dbSNP:192507473
4213 4213 c, g dbSNP:7858249
4216 4216 -, tg dbSNP:750317657
4244 4244 c, t dbSNP:56272226
4260 4260 c, g dbSNP:551207990
4307 4307 c, t dbSNP:765949363
4317 4317 -, ttt, tttt dbSNP:758447440
4317 4317 -, t dbSNP:11310316
4318 4318 -, ttg dbSNP:546428624
4319 4319 g, t dbSNP:111431879
4328 4328 -, tta dbSNP:147753767
4330 4330 -, ta, tta, ttta dbSNP:59923017
4330 4330 a, t dbSNP:63389061
4330 4330 -, t dbSNP:11327946
4331 4331 -, tta dbSNP:72580561
4337 4337 g, t dbSNP:569961039
4387 4387 a, g dbSNP:575143823
4419 4419 a, g dbSNP:536918708
4422 4422 a, g dbSNP:10781379
4437 4437 a, g dbSNP:745515888
4488 4488 c, t dbSNP:759287478
4540 4540 a, g dbSNP:780445803
4572 4572 c, t dbSNP:747375804
4601 4601 c, t dbSNP:556165918
4666 4666 a, g dbSNP:147177647
4678 4678 c, t dbSNP:148219670
4684 4684 c, t dbSNP:776953881
4711 4711 a, t dbSNP:554350828
4776 4776 a, g dbSNP:762423115
4780 4780 a, g dbSNP:545123370
4803 4803 c, g, t dbSNP:56289301
4826 4826 a, g dbSNP:113695176
4831 4831 -, c dbSNP:35067863
4837 4837 a, c dbSNP:554646816
4850 4850 c, t dbSNP:141166099
4851 4851 a, g dbSNP:150714901
4866 4866 a, c dbSNP:72724260
4871 4871 a, c dbSNP:763251375
4931 4931 a, g dbSNP:527521799
4938 4938 a, g dbSNP:185073365
4982 4982 c, t dbSNP:541223608
4985 4985 c, g, t dbSNP:188899351
4986 4986 a, g dbSNP:760340650
4988 4988 c, g dbSNP:763967317
5008 5008 a, c dbSNP:548189845
5013 5013 -, a dbSNP:34235465
5021 5021 c, t dbSNP:569515511
5045 5045 a, g dbSNP:571014160
5048 5048 c, t dbSNP:530843434
5053 5053 a, g dbSNP:757256914
5076 5076 c, t dbSNP:764714873
5077 5077 a, g dbSNP:552453290
5081 5081 -, g dbSNP:34356733
5099 5099 c, t dbSNP:141798960
5100 5100 a, g dbSNP:11145061
5118 5118 a, g dbSNP:12554971
5137 5137 c, t dbSNP:566191092
5146 5146 a, g dbSNP:536322979
5171 5171 c, t dbSNP:181918026
5172 5172 c, t dbSNP:746694402
5173 5173 c, t dbSNP:529911504
5192 5192 c, t dbSNP:576320282
5202 5202 a, g dbSNP:543710417
5263 5263 c, g dbSNP:7874105
5291 5291 a, g dbSNP:577112663
5297 5297 a, c dbSNP:541263315
5320 5320 g, t dbSNP:11145063
5359 5359 g, t dbSNP:532384045
5369 5369 c, t dbSNP:529810877
5376 5376 c, t dbSNP:115046450
5396 5396 -, a dbSNP:748529752
5420 5420 a, g dbSNP:563298308
5455 5455 -, t dbSNP:35383713
5456 5456 a, t dbSNP:552689170
5469 5469 a, c dbSNP:530564724
5513 5513 a, g dbSNP:184628569
5518 5518 c, t dbSNP:773400184
5536 5536 g, t dbSNP:570792069
5558 5558 c, g dbSNP:528372208
5568 5568 a, g dbSNP:10869821
5590 5590 g, t dbSNP:79687055
5606 5606 -, ctc dbSNP:747897246
5642 5642 g, t dbSNP:536762274
5658 5658 c, t dbSNP:548349099
5663 5663 a, c dbSNP:60353555
5674 5674 c, t dbSNP:555152684
5714 5714 c, t dbSNP:759812181
5757 5757 a, g dbSNP:189899104
5789 5789 a, g dbSNP:558513400
5813 5813 a, g dbSNP:773248460
5858 5858 a, g dbSNP:577147048
5864 5864 a, t dbSNP:34267525
5886 5886 -, ggcc dbSNP:199653475
5888 5888 c, g dbSNP:7848466
5898 5898 a, g dbSNP:761716704
5901 5901 c, t dbSNP:770331392
5921 5921 c, t dbSNP:574888268
5922 5922 a, c, g dbSNP:367869318
5981 5981 a, g dbSNP:575394221
5994 5994 a, t dbSNP:11145068
5995 5995 c, g dbSNP:151240103
6005 6005 a, g dbSNP:767098170
6007 6007 c, t dbSNP:11145069
6011 6011 -, aa dbSNP:60780359
6029 6029 a, g dbSNP:35104955
6045 6045 a, g dbSNP:11145070
6057 6057 c, t dbSNP:529126514
6080 6080 a, g dbSNP:114535854
6098 6098 a, g dbSNP:542786671
6110 6110 a, g dbSNP:181420522
6127 6127 a, c dbSNP:11145072
6129 6129 c, t dbSNP:552167626
6130 6130 a, g dbSNP:80012734
6136 6136 -, ta dbSNP:763405256
6153 6153 c, t dbSNP:185002782
6262 6262 c, g dbSNP:10869823
6280 6280 a, t dbSNP:553433126
6300 6300 g, t dbSNP:756655062
6311 6311 c, g dbSNP:7866579
6326 6326 a, t dbSNP:11145073
6367 6367 a, c dbSNP:377312254
6423 6423 a, g dbSNP:12346204
6446 6446 a, g dbSNP:770852732
6450 6450 c, t dbSNP:116391013
6460 6460 c, t dbSNP:575431456
6475 6475 a, g dbSNP:7039631
6498 6498 a, t dbSNP:564080802
6575 6575 a, g dbSNP:572830075
6585 6585 a, g dbSNP:189908213
6600 6600 -, g dbSNP:71500346
6601 6601 cttacc, gcaatct dbSNP:386734760
6601 6601 -, gcaat dbSNP:761663231
6601 6601 c, g dbSNP:561877982
6602 6602 c, t dbSNP:529175496
6603 6603 a, t dbSNP:539957550
6604 6604 a, t dbSNP:562316107
6605 6605 a, t dbSNP:553154609
6605 6605 -, t dbSNP:781519769
6607 6607 -, tacc dbSNP:372755395
6607 6607 c, t dbSNP:573221748
6607 6607 -, t dbSNP:67054076
6630 6630 a, g dbSNP:75329120
6664 6664 c, t dbSNP:7024295
6671 6671 a, g dbSNP:772385458
6689 6689 c, t dbSNP:367866592
6707 6707 a, g dbSNP:79499353
6717 6717 a, g dbSNP:568686959
6734 6734 a, t dbSNP:536118023
6744 6744 c, g dbSNP:557603458
6748 6748 a, g dbSNP:569435256
6762 6762 a, g dbSNP:765041538
6784 6784 -, a dbSNP:201904147
6785 6785 -, t dbSNP:11301594
6788 6788 caca, tcacg dbSNP:71507115
6792 6792 a, g dbSNP:57561255
6821 6821 c, t dbSNP:557932661
6845 6845 g, t dbSNP:572968489
6859 6859 a, g dbSNP:147104515
6887 6887 g, t dbSNP:555323842
6907 6907 c, t dbSNP:147743430
6949 6949 c, t dbSNP:181855141
6960 6960 c, t dbSNP:1045632
7016 7016 c, g dbSNP:533003127
7020 7020 c, g dbSNP:762949523
7022 7022 g, t dbSNP:765798124
7048 7048 a, g dbSNP:544792197
7057 7057 c, t dbSNP:564274782
7076 7076 a, t dbSNP:117140455
7094 7094 c, t dbSNP:374835348
7102 7102 c, t dbSNP:186297986
7124 7124 -, ttataa dbSNP:770833066
7149 7149 g, t dbSNP:116859992

Target ORF information:

RefSeq Version NM_181425
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 2, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_181425

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTATGTAG TGGACCTAAG CGTTATGACT GGACTGGGAA AAACTGGGTG TACTCCCACG
ACGGCGTGTC CCTCCATGAG CTGCTGGCCG CAGAGCTCAC TAAAGCCTTA A

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

CloneID OHu22696
Accession Version NM_001161706.1 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 516bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
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 frataxin, mitochondrial isoform 3 preproprotein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL162730.26. Summary: This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]. Transcript Variant: Transcript Variant: This variant (3) uses an alternate exon in the 3' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. 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. ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

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

RefSeqNP_001155178.1
CDS221..736
Misc Feature(1)113..115(+)
Misc Feature(2)494..592(+)
Misc Feature(3)500..>697(+)
Exon (1)1..385
Gene:FXN
Gene Synonym:
Exon (2)386..483
Gene:FXN
Gene Synonym:
Exon (3)484..604
Gene:FXN
Gene Synonym:
Exon (4)605..702
Gene:FXN
Gene Synonym:
Exon (5)703..980
Gene:FXN
Gene Synonym:
Translation
Position Chain Variation Link
17 17 a, g dbSNP:73647059
129 129 c, t dbSNP:536839594
136 136 a, g dbSNP:558379641
166 166 a, g dbSNP:570630585
177 177 c, g dbSNP:777612392
199 199 a, c dbSNP:748978397
211 211 c, t dbSNP:770717563
214 214 a, g dbSNP:145006100
221 221 a, c dbSNP:147643987
222 222 c, t dbSNP:142133355
222 222 -, t dbSNP:149724959
223 223 a, g, t dbSNP:104894108
229 229 a, t dbSNP:772115386
231 231 -, tc dbSNP:143232208
243 243 c, g dbSNP:775586060
261 261 a, c dbSNP:761236678
269 269 -, gcccg dbSNP:762595005
274 274 -, g dbSNP:763799314
274 274 a, g dbSNP:2481598
287 287 a, g dbSNP:777206398
288 288 c, t dbSNP:572324212
296 296 a, c dbSNP:536676174
307 307 a, g dbSNP:751237760
310 310 a, g dbSNP:759307044
314 314 c, g dbSNP:555289797
317 317 g, t dbSNP:767135118
320 320 -, g dbSNP:138837292
324 324 -, c dbSNP:140510894
332 332 a, g dbSNP:576852565
338 338 -, c dbSNP:138491271
338 338 c, t dbSNP:145854903
348 348 a, g dbSNP:752207437
351 351 a, c dbSNP:544129099
353 353 a, g dbSNP:755663313
358 358 c, g, t dbSNP:565294240
377 377 -, c dbSNP:141935559
382 382 c, t dbSNP:370984034
390 390 c, t dbSNP:180718803
391 391 a, g dbSNP:767221228
398 398 c, t dbSNP:373519193
399 399 a, g dbSNP:141858334
405 405 c, t dbSNP:763682148
406 406 c, t dbSNP:557830508
420 420 a, g dbSNP:146284289
422 422 gtca, ttg dbSNP:138446138
423 423 g, t dbSNP:778674959
441 441 a, g dbSNP:750274023
446 446 a, g dbSNP:59907886
461 461 a, t dbSNP:555673369
471 471 g, t dbSNP:57777433
472 472 g, t dbSNP:747283339
474 474 c, g dbSNP:57215370
475 475 c, t dbSNP:201496405
488 488 c, t dbSNP:573759998
491 491 c, g dbSNP:373668521
493 493 c, t dbSNP:761242340
498 498 c, t dbSNP:778620538
500 500 a, g dbSNP:766667087
505 505 c, t dbSNP:372775073
506 506 a, g dbSNP:762990650
515 515 a, g dbSNP:766086086
517 517 -, t dbSNP:149284013
519 519 a, c dbSNP:541981554
534 534 c, t dbSNP:267602259
535 535 c, t dbSNP:754746888
537 537 c, g, t dbSNP:104894105
537 537 -, t dbSNP:145045861
560 560 -, gcagacaagccat dbSNP:147211454
561 561 c, t dbSNP:767712381
562 562 a, g dbSNP:752999811
565 565 a, c dbSNP:756215781
570 570 c, t dbSNP:778049381
573 573 a, g dbSNP:749780215
574 574 c, g dbSNP:148698100
576 576 c, t dbSNP:757847415
577 577 a, g dbSNP:147571636
584 584 g, t dbSNP:142157346
589 589 c, t dbSNP:200543562
598 598 a, c dbSNP:746185269
601 601 -, tggg dbSNP:151206121
604 604 a, g dbSNP:774839688
609 609 c, g, t dbSNP:104894107
619 619 c, t dbSNP:774296834
620 620 a, g dbSNP:759441343
624 624 a, g dbSNP:771963647
632 632 a, g dbSNP:775491351
635 635 g, t dbSNP:760965156
636 636 a, t dbSNP:764352477
638 638 c, t dbSNP:754011132
646 646 c, t dbSNP:761909026
658 658 c, g dbSNP:146818694
663 663 a, g dbSNP:140472905
664 664 a, g dbSNP:765250715
666 666 c, t dbSNP:551991546
667 667 a, g dbSNP:151193551
678 678 a, g dbSNP:77781994
679 679 a, c dbSNP:780387020
680 680 a, t dbSNP:104894106
683 683 c, t dbSNP:138471431
685 685 a, g dbSNP:149229839
687 687 c, t dbSNP:143340609
688 688 a, g dbSNP:543209710
692 692 g, t dbSNP:748916855
709 709 a, g dbSNP:768870216
723 723 -, g dbSNP:139083793
727 727 -, c dbSNP:769983356
785 785 c, t dbSNP:376738967
787 787 c, t dbSNP:371751976
826 826 c, t dbSNP:574239420
827 827 a, g dbSNP:144973505
867 867 a, c dbSNP:556289262
928 928 a, c dbSNP:773335291
978 978 a, g dbSNP:577326014

Target ORF information:

RefSeq Version NM_001161706
Organism Homo sapiens (human)
Definition Homo sapiens frataxin (FXN), transcript variant 3, mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_001161706

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
ATGTGGACTC TCGGGCGCCG CGCAGTAGCC GGCCTCCTGG CGTCACCCAG CCCAGCCCAG 
GCCCAGACCC TCACCCGGGT CCCGCGGCCG GCAGAGTTGG CCCCACTCTG CGGCCGCCGT
GGCCTGCGCA CCGACATCGA TGCGACCTGC ACGCCCCGCC GCGCAAGTTC GAACCAACGT
GGCCTCAACC AGATTTGGAA TGTCAAAAAG CAGAGTGTCT ATTTGATGAA TTTGAGGAAA
TCTGGAACTT TGGGCCACCC AGGCTCTCTA GATGAGACCA CCTATGAAAG ACTAGCAGAG
GAAACGCTGG ACTCTTTAGC AGAGTTTTTT GAAGACCTTG CAGACAAGCC ATACACGTTT
GAGGACTATG ATGTCTCCTT TGGGAGTGGT GTCTTAACTG TCAAACTGGG TGGAGATCTA
GGAACCTATG TGATCAACAA GCAGACGCCA AACAAGCAAA TCTGGCTATC TTCTCCATCC
AGGTTAACGT GGCTCCTGTG GCTGTTCCAT CCCTGA

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

 
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