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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs8019270          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_199047.2:c.92G>C
NP_950248.1:p.Arg31Pro
NT_026437.11:g.36906925C>G
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 ss76894824 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8019270 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
ss12300327WI_SSAHASNP|chr14.NT_026437.10_35827213byFreqfwd/BC/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt07/04/0310/25/06116Genomicunknown
ss19296964CSHL-HAPMAP|CSHL-HuDD-200402.chr14.NT_026437.10_35827213fwd/BC/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt02/20/0403/04/04120Genomicunknown
ss74807308AFFY|SNP_M-178032fwd/BC/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt08/09/0708/09/07128Genomicunknown
ss76894824SI_EXO|NT_026437.11_36906925fwd/C/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt09/20/0709/20/07129Genomicunknown
ss78351149HGSV|Cor12878_SNV_20070510.chr14_54976925fwd/C/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt10/17/0710/19/07129Genomicunknown
ss89955352BCMHGSC_JDW|JWB-0777532fwd/C/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt02/26/0802/28/08129Genomicunknown
ss1083580761000GENOMES|CEU.trio.12.15.2008_3051947_chr14_54976925fwd/C/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt12/15/0812/15/08130Genomicunknown
ss118487758ILLUMINA-UK|NA18507_000047694_NCBI36.1_chr14_54976925fwd/C/Gtccaggtaggtctcctcctgctccatggacgtaatcccactgttgggggtgggggcgggt01/21/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8019270|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 CGCGCCACTG CACTCCAGCC TGGGCGAGAC TCCATCTCAG AGAAAAATCA ATCAATCAAT
 CAATCAATCA ATCAAAAACC AGAACAACCT GGGAAGGGCC ATGTAATCTG GTAACTGAGT
 GAACGGTTCT GGATTCGTGC TAGATGAAGT TCGAGCTCTG TTTGGCAACC TTGGTCAAAT
 TATTTCACTT TTCGAAGCTT CTAACCTTCA ACTTAATGAC TTGGGAAACC AAGCCCGCCT
 CTTATGGTCG CTATGAGTTT TAAGAGGAAC GAAGGCAAAG CCCTTGGCAC AGGACCGGGC
 GGGACTTGGG TCCTGACTCT GGGACAGTGG CGGCAGCCTC ACCTGAGCGG CGCACTGGTC
 CAGGTAGAGC TCCAGGTAGG TCTCCTCCTG CTCCATGGAC
 S
 GTAATCCCAC TGTTGGGGGT GGGGGCGGGT AAGAGGGTAA GCGCGGAGCG AGCAGCCTCG
 GAACCCGCTC CGGCCAGGGC GCAGAGGCCA TTTATGAGCC TGGGGGCAGC GAGGCGGGGC
 GGCCCTCGGC CCAGGTTCCT GCAGAGGGCG CGAGAGAAGC GTTGGGCGAT GGGCTTGGAG
 CGGGATGCGG AACCCAGCTA CCGGCCCATG GGCGCTGGGA AGCGGAGATG GGCTAGGGGT
 GGGCCGGAGA GGGGCGTCTC GCCTGGGGGC AGTCACCCCA CTCTGCCCGC AGCTGGGAAG
 GGCCTGGGCC TGCAGATTTG ATTTCCTTCG ATACTCGCAA TGTGGTCTTT GCTCCCAGGA
 GAGAAATTCT CGGTGCAAGT GCATGGAAAG TGAGAAAAAA

  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
NT_026437.11
dbSNP Blast Analysis
UniGene Cluster ID
528278

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 G/G
 HWP C
 G
ss12300327 HapMap-CEU European 120 IG 0.133 0.517 0.350 0.527 0.392 0.608
HapMap-HCB Asian 90 IG 0.156 0.400 0.444 0.403 0.356 0.644
HapMap-JPT Asian 88 IG 0.159 0.455 0.386 1.000 0.386 0.614
HapMap-YRI Sub-Saharan African 120 IG 0.450 0.550 0.025 0.225 0.775

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.446+/-0.156 525 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .