BLM (NM_001287248) Human Untagged Clone

Specifications

Product Data
Type	Human Untagged Clone
Tag	Tag Free
Synonyms	BS; MGRISCE1; RECQ2; RECQL2; RECQL3
Vector	pCMV6-Entry
E. coli Selection	Kanamycin (25 ug/mL)
Mammalian Cell Selection	Neomycin
Sequence Data	Fully Sequenced ORF (showhide) >NCBI ORF sequence for NM_001287248, the custom clone sequence may differ by one or more nucleotides ATGGAGCACATCTGTAAATTAATTGATACTATTCCTGATGATAAACTGAAACTTTTGGATTGTGGGAACG AACTGCTTCAGCAGCGGAACATAAGAAGGAAACTTCTAACGGAAGTAGATTTTAATAAAAGTGATGCCAG TCTTCTTGGCTCATTGTGGAGATACAGGCCTGATTCACTTGATGGCCCTATGGAGGGTGATTCCTGCCCT ACAGGGAATTCTATGAAGGAGTTAAATTTTTCACACCTTCCCTCAAATTCTGTTTCTCCTGGGGACTGTT TACTGACTACCACCCTAGGAAAGACAGGATTCTCTGCCACCAGGAAGAATCTTTTTGAAAGGCCTTTATT CAATACCCATTTACAGAAGTCCTTTGTAAGTAGCAACTGGGCTGAAACACCAAGACTAGGAAAAAAAAAT GAAAGCTCTTATTTCCCAGGAAATGTTCTCACAAGCACTGCTGTGAAAGATCAGAATAAACATACTGCTT CAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGACTTTGA TGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCTATCAA CCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTGTCTTC CAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGACAAGTCAGCACA AAATTTAGCATCCAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGGAAATG ATGAAGATTTTTCATAAAAAATTTGGCCTGCATAATTTTAGAACTAATCAGCTAGAGGCGATCAATGCTG CACTGCTTGGTGAAGACTGTTTTATCCTGATGCCGACTGGAGGTGGTAAGAGTTTGTGTTACCAGCTCCC TGCCTGTGTTTCTCCTGGGGTCACTGTTGTCATTTCTCCCTTGAGATCACTTATCGTAGATCAAGTCCAA AAGCTGACTTCCTTGGATATTCCAGCTACATATCTGACAGGTGATAAGACTGACTCAGAAGCTACAAATA TTTACCTCCAGTTATCAAAAAAAGACCCAATCATAAAACTTCTATATGTCACTCCAGAAAAGATCTGTGC AAGTAACAGACTCATTTCTACTCTGGAGAATCTCTATGAGAGGAAGCTCTTGGCACGTTTTGTTATTGAT GAAGCACATTGTGTCAGTCAGTGGGGACATGATTTTCGTCAAGATTACAAAAGAATGAATATGCTTCGCC AGAAGTTTCCTTCTGTTCCGGTGATGGCTCTTACGGCCACAGCTAATCCCAGGGTACAGAAGGACATCCT GACTCAGCTGAAGATTCTCAGACCTCAGGTGTTTAGCATGAGCTTTAACAGACATAATCTGAAATACTAT GTATTACCGAAAAAGCCTAAAAAGGTGGCATTTGATTGCCTAGAATGGATCAGAAAGCACCACCCATATG ATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAATGTGACACCATGGCTGACACGTTACAGAGAGATGG GCTCGCTGCTCTTGCTTACCATGCTGGCCTCAGTGATTCTGCCAGAGATGAAGTGCAGCAGAAGTGGATT AATCAGGATGGCTGTCAGGTTATCTGTGCTACAATTGCATTTGGAATGGGGATTGACAAACCGGACGTGC GATTTGTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTTACTACCAAGAATCTGGCAGAGCTGGAAG AGATGGGGAAATATCTCACTGCCTGCTTTTCTATACCTATCATGATGTGACCAGACTGAAAAGACTTATA ATGATGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCATGGTACATT ACTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTTAATCC TGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGATTATAAAACAAGA GATGTGACTGACGATGTGAAAAGTATTGTAAGATTTGTTCAAGAACATAGTTCATCACAAGGAATGAGAA ATATAAAACATGTAGGTCCTTCTGGAAGATTTACTATGAATATGCTGGTCGACATTTTCTTGGGGAGTAA GAGTGCAAAAATCCAGTCAGGTATATTTGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGACTT TTTAAAAAGCTGATACTTGACAAGATTTTGGATGAAGACTTATATATCAATGCCAATGACCAGGCGATCG CTTATGTGATGCTCGGAAATAAAGCCCAAACTGTACTAAATGGCAATTTAAAGGTAGACTTTATGGAAAC AGAAAATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAAAGTGTCTCAGAGGGAAGAGATGGTT AAAAAATGTCTTGGAGAACTTACAGAAGTCTGCAAATCTCTGGGGAAAGTTTTTGGTGTCCATTACTTCA ATATTTTTAATACCGTCACTCTCAAGAAGCTTGCAGAATCTTTATCTTCTGATCCTGAGGTTTTGCTTCA AATTGATGGTGTTACTGAAGACAAACTGGAAAAATATGGTGCGGAAGTGATTTCAGTATTACAGAAATAC TCTGAATGGACATCGCCAGCTGAAGACAGTTCCCCAGGGATAAGCCTGTCCAGCAGCAGAGGCCCCGGAA GAAGTGCCGCTGAGGAGCTCGACGAGGAAATACCCGTATCTTCCCACTACTTTGCAAGTAAAACCAGAAA TGAAAGGAAGAGGAAAAAGATGCCAGCCTCCCAAAGGTCTAAGAGGAGAAAAACTGCTTCCAGTGGTTCC AAGGCAAAGGGGGGGTCTGCCACATGTAGAAAGATATCTTCCAAAACGAAATCCTCCAGCATCATTGGAT CCAGTTCAGCCTCACATACTTCTCAAGCGACATCAGGAGCCAATAGCAAATTGGGGATTATGGCTCCACC GAAGCCTATAAATAGACCGTTTCTTAAGCCTTCATATGCATTCTCATAA
Restriction Sites	AscI-MluI
ACCN	NM_001287248
OTI Disclaimer	Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components	The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
Reconstitution	1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.
Note	Plasmids are not sterile.  For experiments where strict sterility is required, filtration with 0.22um filter is required.
Reference Data
RefSeq	NM_001287248.1, NP_001274177.1
RefSeq Size	4721 bp
RefSeq ORF	3129 bp
Locus ID	641
UniProt ID	P54132
Protein Families	Druggable Genome, Stem cell - Pluripotency
Protein Pathways	Homologous recombination
Gene Summary	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020] Transcript Variant: This variant (4) uses an alternate splice site in a 5' exon and uses a downstream translation start compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-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.

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