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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs13414011          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/130
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_173650.1:c.152A>G
NP_775921.1:p.His51Arg
NT_022184.14:g.6316593A>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 ss23089701 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13414011 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
ss23089701WUGSC_SSAHASNP|WUGSC_WUchr2_SNPS_200403.chr2.NT_022184.13_6316593byFreqfwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca03/22/0410/26/06121Genomicunknown
ss65730745ILLUMINA|Human1-rs13414011fwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca10/10/0610/10/06127Genomicunknown
ss68385123CSHL-HAPMAP|perlegen:assay:24707.4937275:1fwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca01/11/0701/11/07127NAunknown
ss68807502PERLEGEN|PGP04937275byFreqfwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca01/30/0703/31/08127Genomicunknown
ss74817383AFFY|SNP_M-315252fwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca08/09/0708/09/07128Genomicunknown
ss74891187ILLUMINA|ILMN_Human_1M_rs13414011fwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca08/28/0708/29/07129Genomicunknown
ss81937879HGSV|Cor19240_SNV_20070510.chr2_27412311fwd/TA/Gcattgcttccccaccctccttttgagtatccctgggtaggaaactggccttgcggtatca11/30/0712/01/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13414011|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTCACTTTGG GGCCAAATGG CACCATCACC CTCTTCATTA TAGTATGGGA AGGAGTTTAG
 ACCTTGGATG CTTGCCTCCA TCCTTTGTAC CACATCTCAT GCATTCCTTC TGCACTCTCT
 AGAGACTAAT CCATGTCATT CATCGTAAGT CTCCTTCCCC AGCCATTCCG CATTGCTTCC
 CCACCCTCCT TTTGAGTATC
 R
 CCTGGGTAGG AAACTGGCCT TGCGGTATCA TCCCGACAAG AATCCAGGGA ATGCTCAAGC
 AGCAGAAATA TTCAAAGAGA TCAACGCAGC TCATGCCATA CTGAGCGACT CTAAGAAGCG
 GAAAATTTAC GACCAGCATG GCTCATTGGG AATATATCTG TATGATCACT TTGGTGAAGA
 AGGCGTCAGA TACTATTTTA

  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_022184
dbSNP Blast Analysis
UniGene Cluster ID
116303

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss23089701 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.600 0.400 0.100 0.800 0.200
ss68807502 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.600 0.400 0.800 0.200

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.108+/-0.206 946 741 270 0

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

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Revised: May 25, 2006 1:38 PM .