ALFRED detailed record information
Synonyms: rs2234691 ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
External Resources: Typing Protocol Record GenBank sequence Record dbSNP rs# Record dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This is C/T SNP located at position 165 bp of intron 2 of the gene RBP3, at position 75 of GenBank entry AF003991 that alters a BglII restriction site. For the protocol given, the site-absent allele, B1, gives an approximately 400 bp PCR product and the site-present allele, B2, gives fragments of approximately 310 bp and 90 bp after digestion with BglII.
Ancestral Allele: Site Absent
Ancestral Allele Determine by: Sequence on primate DNA
|Allele Name||Allele Symbol||Description|
|BglII Site Absent||C||5'-aatgacagc AGATC C gctgggctagct-3'|
|BglII Site Present||T||5'-aatgacagc AGATC T gctgggctagct-3'|
- Iyengar S, Seaman M, Deinard AS, Rosenbaum HC, Sirugo G, Castiglione CM, Kidd JR, Kidd KK. "Analyses of cross-species polymerase chain reaction products to infer the ancestral state of human polymorphisms". DNA Seq. 8:317-27. (1998) Online citation.
- Rodriguez JA, Liou GI, Daiger SP. "PCR detection of the BgIII RFLP at the RBP3 locus". Nucleic Acids Res. 18:5578. (1990) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan