[Assays] [Markers - Autosomal SNPs, Y-SNPs, mtDNA SNPs] [SNP Typing Technologies] [Links to Other SNP Resources]
This site is intended to provide general information on single nucleotide polymorphism (SNP) markers that may be of interest in human identification applications. Many of these markers come from The SNP Consortium (TSC) efforts or are already present in the NCBI dbSNP database. To submit a SNP marker for inclusion on this forensic SNP site, please provide the requested information in a Microsoft Excel spreadsheet or a standardized SNP fact sheet (click here to download) to John Butler via email: john.butler@nist.gov.
For discussion regarding the potential role of SNPs in the future of forensic DNA typing, see Gill, P., Werrett, D.J., Budowle, B. and Guerrieri, R. (2004) An assessment of whether SNPs will replace STRs in national DNA databases-Joint considerations of the DNA working group of the European Network of Forensic Science Institutes (ENFSI) and the Scientific Working Group on DNA Analysis Methods (SWGDAM). Science&Justice, 44(1): 51-53.
Last Updated: 05/15/08
52plex Autosomal SNP assay - Sanchez et al. (2006) Electrophoresis, in press [Supplementary material]
21plex Autosomal SNP assay - Dixon et al. (2005) Forensic Sci. Int. 154(1): 62-77
35plex Y-SNP minisequencing assay - Sanchez et al. (2003) Forensic Sci. Int. 137(1):74-84
50 Y-SNPs in 8 multiplexes - Vallone and Butler (2004) J. Forensic Sci. 49: 723-732
11plex mtSNP minisequencing assay - Vallone et al. (2004) Int. J. Legal Med. 118: 147-157
Kidd, K.K., Pakstis, A.J., Speed, W.C., Grigorenko, E.L., Kajuna, S.L., Karoma, N.J., Kungulilo, S., Kim, J.J., Lu, R.B., Odunsi, A., Okonofua, F., Parnas, J., Schulz, L.O., Zhukova, O.V., Kidd, J.R. (2006) Developing a SNP panel for forensic identification of individuals. Forensic Sci. Int. 164(1):20-32
Pakstis, A.J., Speed, W.C., Kidd, J.R., Kidd, K.K. (2007) Candidate SNPs for a universal individual identification panel. Hum Genet. 121(3-4):305-317.
Butler, J.M., Coble, M.D., Vallone, P.M. (2007) STRs vs SNPs: thoughts on the future of forensic DNA testing. Forensic Sci. Med. Pathol. 3: 200-205.
Budowle, B. and van Daal, A. (2008) Forensically relevant SNP classes. Biotechniques 44(5): 603-610.
Vallone, P.M., Decker, A.E., Butler, J.M. (2005) Allele frequencies for 70 autosomal SNP loci with U.S. Caucasian, African American, and Hispanic Samples. Forensic Sci. Int. 149: 279-286
Information on 52 SNPs in SNPforID 52-plex assay (summarized from SNPforID website or supplied by Chris Phillips)
Sanchez, J.J. et al. (2006) A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis 27(9): 1713-1724 [Supplementary material]
Information on 21 SNPs in Forensic Science Service 21-plex assay
Dixon, L.A. et al. (2005) Validation of a 21-locus autosomal SNP multiplex for forensic identification purposes. Forensic Sci. Int. 154(1): 62-77
Individuals SNP Fact Sheets have been submitted for many of the FSS-selected SNP loci:
TSC 0252540 (submitted by Peter Gill)
TSC 1342445 (submitted by Peter Gill)
TSC 0421768 (submitted by Peter Gill)
TSC 0478751 (submitted by Peter Gill)
TSC 0320706 (submitted by Peter Gill)
TSC 0155410 (submitted by Peter Gill)
TSC 0154197 (submitted by Peter Gill)
TSC 0683201 (submitted by Peter Gill)
TSC 0739545 (submitted by Peter Gill)
TSC 0131214 (submitted by Peter Gill)
TSC 0156245 (submitted by Peter Gill)
TSC 0709016 (submitted by Peter Gill)
TSC 0078283 (submitted by Peter Gill)
Information on 50 Y-SNPs typed at NIST
Vallone, P.M. and Butler, J.M. (2004) Y-SNP typing of U.S. African American and Caucasian samples using allele-specific hybridization and primer extension. J. Forensic Sci. 49(4): 723-732
Information on 29 Y-SNPs useful for major Y-chromosome haplogroup determination
Brion, M. et al. (2005) Introduction of an single nucleotide polymorphism-based "Major Y-chromosome haplogroup typing kit" suitable for predicting the geographical origin of male lineages. Electrophoresis 26: 4411-4420
Control region SNPs with the LINEAR ARRAY assay
Kline, M.C. et al. (2005) Mitochondrial DNA typing screens with control region and coding region SNPs. J. Forensic Sci. 50: 377-385
Divne, M. et al. (2005) Forensic casework analysis using the HVI/HVII mtDNA linear array assay. J. Forensic Sci. 50(3):548-54
Coding region SNPs
Coble, M.D. et al. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int. J. Legal Med., 118: 137-146
Vallone, P.M. et al. (2004) A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome. Int. J. Legal Med., 118: 147-157
Coble, M.D. et al. (2006) Effective strategies for forensic analysis in the mitochondrial DNA coding region. Int. J. Legal. Med. 120:27-32. [Supplementary Data]
Protocol for 11plex SNP assay developed at NIST [Genotyper macro for mtSNP 11plex]
Helpful review articles on SNP typing technologies:
Sobrino, B., Brion, M., Carracedo, A. (2005) SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Sci Int. 154(2-3):181-94
Sobrino, B., Carracedo, A. (2005) SNP typing in forensic genetics: a review. Methods Mol Biol. (Forensic DNA Typing Protocols) 297:107-126
A brief summary of the following technologies will be included in the future: [COMING SOON]
Minisequencing/SNaPshot/Primer Extension assay
MALDI-TOF Mass Spectrometry with Primer Extension assay
TaqMan Real-time PCR assay
Luminex Bead Array with Allele-specific Hybridization assay
Pyrosequencing
Microarray technologies
SNPforID browser with allele frequency information: http://spsmart.cesga.es/snpforid.php
SNPforID publications: http://www.snpforid.org/publications.html
dbSNP Homepage at NCBI: http://www.ncbi.nlm.nih.gov/projects/SNP/
International HapMap Project: http://www.hapmap.org/
Japanese SNP Database: http://snp.ims.u-tokyo.ac.jp/
ALFRED (The ALlele FREquency Database): http://alfred.med.yale.edu/alfred/index.asp
SPSmart (The Snps-for-Population-Studies-mart engine): http://spsmart.cesga.es/