|Name||ALFRED UID||Locus Name||Locus Symbol|
|intron 1 MspI||SI000169Q||Retinol binding protein 3, interstitial||RBP3|
|Fst||Avg Het||# Populations Typed|
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 G/T SNP located at position 1411 bp of intron 1 of the gene RBP3, at position 96 of GenBank entry AF003990 that alters an MspI restriction site. For the protocol given, the site-absent allele gives an approximately 515 bp PCR product and the site-present allele, gives fragments of approximately 394 bp and 121 bp after digestion with MspI.
Ancestral Allele: Site Absent
Ancestral Allele Determine by: Sequence on primate DNA
|Allele Name||Allele Symbol||Description|
|MspI Site Absent||T||5'-caggcacctggc CC T G tactaagcac-3'|
|MspI Site Present||G||5'-caggcacctggc CC G G tactaagcac-3'|
- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.
- Wu J, Cavenee WK, Miki T, Kidd KK. "A polymorphic DNA marker on chromosome 10 linked to RBP3 on the MEN2A side". Cytogenet Cell Genet 48:246-7. (1988) Online citation.
- Wu J, Nickerson JM. "PCR detection of the MspI polymorphism in the human IRBP gene (RPB3)". Nucleic Acids Res. 19:4016. (1991) 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