BLM (NM_001287247) 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_001287247, the custom clone sequence may differ by one or more nucleotides ATGGCTGCTGTTCCTCAAAATAATCTACAGGAGCAACTAGAACGTCACTCAGCCAGAACACTTAATAATA AATTAAGTCTTTCAAAACCAAAATTTTCAGGTTTCACTTTTAAAAAGAAAACATCTTCAGATAACAATGT ATCTGTAACTAATGTGTCAGTAGCAAAAACACCTGTATTAAGAAATAAAGATGTTAATGTTACCGAAGAC TTTTCCTTCAGTGAACCTCTACCCAACACCACAAATCAGCAAAGGGTCAAGGACTTCTTTAAAAATGCTC CAGCAGGACAGGAAACACAGAGAGGTGGATCAAAATCATTATTGCCAGATTTCTTGCAGACTCCGAAGGA AGTTGTATGCACTACCCAAAACACACCAACTGTAAAGAAATCCCGGGATACTGCTCTCAAGAAATTAGAA TTTAGTTCTTCACCAGATTCTTTAAGTACCATCAATGATTGGGATGATATGGATGACTTTGATACTTCTG AGACTTCAAAATCATTTGTTACACCACCCCAAAGTCACTTTGTAAGAGTAAGCACTGCTCAGAAATCAAA AAAGGGTAAGAGAAACTTTTTTAAAGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGCCTCCA CCCTCCTCTGAAAGCGAGCAAATAGATTTGACTGAGGAACAGAAGGATGACTCAGAATGGTTAAGCAGCG ATGTGATTTGCATCGATGATGGCCCCATTGCTGAAGTGCATATAAATGAAGATGCTCAGGAAAGTGACTC TCTGAAAACTCATTTGGAAGATGAAAGAGATAATAGCGAAAAGAAGAAGAATTTGGAAGAAGCTGAATTA CATTCAACTGAGAAAGTTCCATGTATTGAATTTGATGATGATGATTATGATACGGATTTTGTTCCACCTT CTCCAGAAGAAATTATTTCTGCTTCTTCTTCCTCTTCAAAATGCCTTAGTACGTTAAAGGACCTTGACAC CTCTGACAGAAAAGAGGATGTTCTTAGCACATCAAAAGATCTTTTGTCAAAACCTGAGAAAATGAGTATG CAGGAGCTGAATCCAGAAACCAGCACAGACTGTGACGCTAGACAGATAAGTTTACAGCAGCAGCTTATTC ATGTGATGGAGCACATCTGTAAATTAATTGATACTATTCCTGATGATAAACTGAAACTTTTGGATTGTGG GAACGAACTGCTTCAGCAGCGGAACATAAGAAGGAAACTTCTAACGGAAGTAGATTTTAATAAAAGTGAT GCCAGTCTTCTTGGCTCATTGTGGAGATACAGGCCTGATTCACTTGATGGCCCTATGGAGGGTGATTCCT GCCCTACAGGGAATTCTATGAAGGAGTTAAATTTTTCACACCTTCCCTCAAATTCTGTTTCTCCTGGGGA CTGTTTACTGACTACCACCCTAGGAAAGACAGGATTCTCTGCCACCAGGAAGAATCTTTTTGAAAGGCCT TTATTCAATACCCATTTACAGAAGTCCTTTGTAAGTAGCAACTGGGCTGAAACACCAAGACTAGGAAAAA AAAATGAAAGCTCTTATTTCCCAGGAAATGTTCTCACAAGCACTGCTGTGAAAGATCAGAATAAACATAC TGCTTCAATAAATGACTTAGAAAGAGAAACCCAACCTTCCTATGATATTGATAATTTTGACATAGATGAC TTTGATGATGATGATGACTGGGAAGACATAATGCATAATTTAGCAGCCAGCAAATCTTCCACAGCTGCCT ATCAACCCATCAAGGAAGGTCGGCCAATTAAATCAGTATCAGAAAGACTTTCCTCAGCCAAGACAGACTG TCTTCCAGTGTCATCTACTGCTCAAAATATAAACTTCTCAGAGTCAATTCAGAATTATACTGACAAGTCA GCACAAAATTTAGCATCCAGAAATCTGAAACATGAGCGTTTCCAAAGTCTTAGTTTTCCTCATACAAAGG AAATGATGAAGATTTTTCATAAAAAATTTGGCCTGCATAATTTTAGAACTAATCAGCTAGAGGCGATCAA TGCTGCACTGCTTGGTGAAGACTGTTTTATCCTGATGCCGACTGGAGGTGGTAAGAGTTTGTGTTACCAG CTCCCTGCCTGTGTTTCTCCTGGGGTCACTGTTGTCATTTCTCCCTTGAGATCACTTATCGTAGATCAAG TCCAAAAGCTGACTTCCTTGGATATTCCAGCTACATATCTGACAGGTGATAAGACTGACTCAGAAGCTAC AAATATTTACCTCCAGTTATCAAAAAAAGACCCAATCATAAAACTTCTATATGTCACTCCAGAAAAGATC TGTGCAAGTAACAGACTCATTTCTACTCTGGAGAATCTCTATGAGAGGAAGCTCTTGGCACGTTTTGTTA TTGATGAAGCACATTGTGTCAGTCAGTGGGGACATGATTTTCGTCAAGATTACAAAAGAATGAATATGCT TCGCCAGAAGTTTCCTTCTGTTCCGGTGATGGCTCTTACGGCCACAGCTAATCCCAGGGTACAGAAGGAC ATCCTGACTCAGCTGAAGATTCTCAGACCTCAGGTGTTTAGCATGAGCTTTAACAGACATAATCTGAAAT ACTATGTATTACCGAAAAAGCCTAAAAAGGTGGCATTTGATTGCCTAGAATGGATCAGAAAGCACCACCC ATATGATTCAGGGATAATTTACTGCCTCTCCAGGCGAGAATGTGACACCATGGCTGACACGTTACAGAGA GATGGGCTCGCTGCTCTTGCTTACCATGCTGGCCTCAGTGATTCTGCCAGAGATGAAGTGCAGCAGAAGT GGATTAATCAGGATGGCTGTCAGGTTATCTGTGCTACAATTGCATTTGGAATGGGGATTGACAAACCGGA CGTGCGATTTGTGATTCATGCATCTCTCCCTAAATCTGTGGAGGGTTACTACCAAGAATCTGGCAGAGCT GGAAGAGATGGGGAAATATCTCACTGCCTGCTTTTCTATACCTATCATGATGTGACCAGACTGAAAAGAC TTATAATGATGGAAAAAGATGGAAACCATCATACAAGAGAAACTCACTTCAATAATTTGTATAGCATGGT ACATTACTGTGAAAATATAACGGAATGCAGGAGAATACAGCTTTTGGCCTACTTTGGTGAAAATGGATTT AATCCTGATTTTTGTAAGAAACACCCAGATGTTTCTTGTGATAATTGCTGTAAAACAAAGGATTATAAAA CAAGAGATGTGACTGACGATGTGAAAAGTATTGTAAGATTTGTTCAAGAACATAGTTCATCACAAGGAAT GAGAAATATAAAACATGTAGGTCCTTCTGGAAGATTTACTATGAATATGCTGGTCGACATTTTCTTGGAA TCTTTATCTTCTGATCCTGAGGTTTTGCTTCAAATTGATGGTGTTACTGAAGACAAACTGGAAAAATATG GTGCGGAAGTGATTTCAGTATTACAGAAATACTCTGAATGGACATCGCCAGCTGAAGACAGTTCCCCAGG GATAAGCCTGTCCAGCAGCAGAGGCCCCGGAAGAAGTGCCGCTGAGGAGCTCGACGAGGAAATACCCGTA TCTTCCCACTACTTTGCAAGTAAAACCAGAAATGAAAGGAAGAGGAAAAAGATGCCAGCCTCCCAAAGGT CTAAGAGGAGAAAAACTGCTTCCAGTGGTTCCAAGGCAAAGGGGGGGTCTGCCACATGTAGAAAGATATC TTCCAAAACGAAATCCTCCAGCATCATTGGATCCAGTTCAGCCTCACATACTTCTCAAGCGACATCAGGA GCCAATAGCAAATTGGGGATTATGGCTCCACCGAAGCCTATAAATAGACCGTTTCTTAAGCCTTCATATG CATTCTCATAA
Restriction Sites	SgfI-MluI
ACCN	NM_001287247
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.
Reference Data
RefSeq	NM_001287247.1, NP_001274176.1
RefSeq Size	4162 bp
RefSeq ORF	3861 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 (3) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter 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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