Skip to main content
NCBI
dbSNP

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs16864310          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_002021.1:c.668G>A
NP_002012.1:p.Arg223Gln
NT_004487.18:g.21740320G>A
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss32479800 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs16864310 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss23865803PERLEGEN|afd0660319fwd/TA/Ggcaccaccggagggggatgggtgatcagccaatctttgactcgggctacccatgggacat08/10/0408/20/04123Genomicunknown
ss32479800EGP_SNPS|FMO1-032451fwd/TA/Ggcaccaccggagggggatgggtgatcagccaatctttgactcgggctacccatgggacat01/07/0502/08/05125Genomicunknown
ss74902811ILLUMINA|ILMN_Human_1M_rs16864310fwd/TA/Ggcaccaccggagggggatgggtgatcagccaatctttgactcgggctacccatgggacat08/28/0708/29/07129Genomicunknown
ss84156299PHARMGKB_AB_DME|PS206228_PA149749196_301fwd/TA/Ggcaccaccggagggggatgggtgatcagccaatctttgactcgggctacccatgggacat12/06/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs16864310|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GGCATTTTAA TACTCTAGAT GCTCTGAATC CTAATCTCAA AAGGATTAAC TTTAAAATAG
 AAGTTAGAAG AACCAAGACT ATCTTGTCAG GGGTGTATTT TGAGAGTGGC AGACTTTTCA
 GTGCCTTTCC ATTCATGACA CTTCTTGAAT CTCTGGCAGA ACCAGCCAGC CGTGTTCACA
 GTGTCAAATG AAGGGATGTC TTTGATTGCT TCCAGGTGTT CCTCAGCACC ACCGGAGGGG
 GATGGGTGAT CAGCC
 R
 AATCTTTGAC TCGGGCTACC CATGGGACAT GGTGTTCATG ACACGCTTTC AGAACATGTT
 GAGAAATTCC CTCCCAACCC CAATTGTGAC TTGGTTGATG GAGCGAAAGA TAAACAACTG
 GCTCAATCAT GCAAATTACG GCTTAATACC AGAAGACAGG TAAATATAAT GTGACTGCCA
 AGGGCTTTTA GGAAGAAGGA GCCTCTGCCT GTCCAGCAGC CTATACAAGC CAGGCAGTAC
 CACAGCAACA TGGCT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr
Contig
allele
Group term Group label Contig label Neighbor
SNP
Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NC_000001.5
dbSNP Blast Analysis
UniGene Cluster ID
1424

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source A/G
G/G
HWP A
G
ss23865803 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 48 IG 0.042 0.958 1.000 0.021 0.979
ss32479800 PDR90 Global 176 IG 0.011 0.989 1.000 0.006 0.994
HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
ss84156299 PA149749197 358 AF 0.003 0.997

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.005+/-0.052 1011 862 15 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN YES

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .