Nephronophthisis (NPHP1) (NM_001128179) Human 3' UTR Clone

Specifications

Product Data
Product Name	Nephronophthisis (NPHP1) (NM_001128179) Human 3' UTR Clone
Vector	pMirTarget
Synonyms	JBTS4; NPH1; SLSN1
ACCN	NM_001128179
Insert Size	473 bp
Sequence Data	Insert Sequence (showhide) >SC206227 3’UTR clone of NM_001128179 The sequence shown below is from the reference sequence of NM_001128179. The complete sequence of this clone may contain minor differences, such as SNPs. Blue=Stop Codon Red=Cloning site GGCAAGTTGGACGCCCGCAAGATCCGCGAGATTCTCATTAAGGCCAAGAAGGGCGGAAAGATCGCCGTG TAACAATTGGCAGAGCTCAGAATTCAAGCGATCGCC TTGGGTGAAATGAGAAAGAATGCAGTGTGACAGTGGCAGCCTCTAGCCCTCAGCTTCCCACGGAATCAG ATGGATCCTCCACGATTACGTGAATAAAATGATGGAACCAAAAATCACTGTCACTTTACAACTTAGGTT TTACTCTTTTCTTTCTACAGACCATATTTTTAAAGAAATGTTTATACAATAATTTAAATATTTTTTAAA ACCATAAAATAAATTTTTATAAGGAATACTGTTATATCTAAATTTAAACAGTATTTATTTTTTCAAAAA CAGCTACTTAAGTTAATGGTATAGATTTCTATAAAAGCAAGATTTTGTCAAAAACTAAATTTATGATTA TTCAAGAAAGTGAAAAAAACAACCTACAGAATGGGAAAACATATTTGCAAATCATCTAACTGATAAAGG TCTAGTATCCAAAATATTTAAATTTATGAGTGTTAATAAAATTTATCTTGTTCAATGAA ACGCGTAAGCGGCCGCGGCATCTAGATTCGAAGAAAATGACCGACCAAGCGACGCCCAACCTGCCATCA CGAGATTTCGATTCCACCGCCGCCTTCTATGAAAGG
Restriction Sites	SgfI-MluI
OTI Disclaimer	Our molecular clone sequence data has been matched to the sequence identifier above as a point of reference. Note that the complete sequence of this clone is largely the same as the reference sequence but may contain minor differences , e.g., single nucleotide polymorphisms (SNPs).
Reference Data
RefSeq	NM_001128179.3
Synonyms	JBTS4; NPH1; SLSN1
Summary	This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Locus ID	4867
MW	18.8

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