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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10454213          
refSNP ID: rs10454213
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NT_005612.15:g.271882A>G
Links

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 ss44387056 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10454213 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
ss14789820SC_SNP|NT_005612.14_271882fwd/TA/Gccaaactaagggcataattaactaggcatttaaggagattattagagattcagacaaaat11/12/0311/22/03119Genomicunknown
ss21984878SSAHASNP|WGSA-200403-chr3.chr3.NT_005612.14_271882fwd/TA/Gccaaactaagggcataattaactaggcatttaaggagattattagagattcagacaaaat03/20/0403/20/04121Genomicunknown
ss44387056ABI|hCV1480120byFreqfwd/TA/Gccaaactaagggcataattaactaggcatttaaggagattattagagattcagacaaaat07/18/0511/03/06126Genomicunknown
ss74891014ILLUMINA|ILMN_Human_1M_rs10454213fwd/TA/Gccaaactaagggcataattaactaggcatttaaggagattattagagattcagacaaaat08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10454213|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TAAGGGGAGA AACAGAAGTG GCTTCACTCG GGGAAAAAAT GTATAAGCCT GAAAGCAGTG
 GAATCAATAA ACTCAATTTA CAATGCACAA AAAAAATTTT AAAATACCTT CACACTTAAA
 GTCAAATGGT TATAAGAAAA ATTGAGAAAG TGTTTTAACA TCTGACATGG TTATCTCAAA
 TATAAATAAA ATGATACTAA GACACCTATA GATAAGTGGA CATGAGCGGT AATCTAAAAA
 AGAAATAACT AATAAGATTT GAAAACCTAC CCAAACTAAG GGCATAATTA ACTAGGCATT
 R
 TAAGGAGATT ATTAGAGATT CAGACAAAAT TCATAAGCAA AGTTGTTTAT TTAAAATCAG
 AAAATATAAA GATGCTGAGT CCCAAAAATG TGATAAAATT AATATGACCT CTTTCCAAGT
 ATAACACATT GCCTTTCTCT AACAGAAATA AACTATGATT CTTATTACAG TCTTAAAATT
 CTTTTTTTAA TGAATGAGTG TAACTTTTTA TTAAGATAGA ATTATTTTTA TTAAAGAAAT
 ATATGAAAAT GGTTAAGTAA AATCAAATGG CTCCAAAAGT CTTACAATGA AAACAGTCCT

  GeneView back to top
GeneView via analysis of contig annotation: DHFRL1 dihydrofolate reductase-like 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_005612->NM_176815
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_005612->NM_176815->NP_789785271882reverse3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10454213 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
3NW_001838880.2464248191139353minusCalt_assembly_8HuRefHuRefview300
3NW_921807.134629292160622plusGalt_assembly_1CeleraCeleraview300
3NT_005612.1527188295259426plusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005612
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
HWPA
G
ss44387056HapMap-CEUEuropean 120IG 0.717 0.283 0.251 0.858 0.142
HapMap-HCBAsian 90IG 0.844 0.156 0.584 0.922 0.078
HapMap-JPTAsian 88IG 0.864 0.136 0.655 0.932 0.068
HapMap-YRISub-Saharan African 120IG 1.000 1.000
AoD_African_American 90AF 0.980 0.020
AoD_Caucasian 92AF 0.880 0.120

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.133+/-0.22127021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .