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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1047265          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
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
NM_001025108.1:c.1556A>G
NM_002285.2:c.1481A>G
NP_001020279.1:p.Asn519Ser
NP_002276.2:p.Asn494Ser
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 ss44141800 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1047265 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
ss1519188LEE|265934fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt09/13/0010/10/0386cDNAunknown
ss4322521CGAP-GAI|262629rev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga11/28/0110/10/03102cDNAunknown
ss4411255LEE|e265934fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt04/26/0210/10/03106cDNAunknown
ss4978499YUSUKE|IMS-JST149496rev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga08/12/0210/10/03108Genomicunknown
ss16250248CGAP-GAI|1499626fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt11/18/0311/22/03120cDNAunknown
ss21580367SSAHASNP|WGSA-200403-chr2.chr2.NT_022171.13_2276666byFreqrev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga03/20/0405/16/04121Genomicunknown
ss44141800ABI|hCV7502161byFreqrev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga07/18/0511/03/06126Genomicunknown
ss65724671ILLUMINA|Human1-rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt10/10/0610/10/06127Genomicunknown
ss66793562ILLUMINA|HumanHap300v1.1_rs1047265fwd/BA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt11/09/0611/09/06127Genomicunknown
ss66884496ILLUMINA|HumanHap550v1.1_rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt11/14/0611/14/06127Genomicunknown
ss66980422ILLUMINA|HumanHap650Yv1.0_rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt11/14/0611/14/06127Genomicunknown
ss68822415PERLEGEN|PGP04478674byFreqrev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga01/30/0708/14/07127Genomicunknown
ss70366379ILLUMINA|HumanHap300v2.0_rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt04/18/0711/17/07127Genomicunknown
ss70480254ILLUMINA|HumanHap550v3.0__rs1047265rev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga04/20/0703/30/08130Genomicunknown
ss71003894ILLUMINA|HumanHap650Yv3.0_rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt04/23/0704/23/07127Genomicunknown
ss75856177ILLUMINA|ILMN_Human_1M_rs1047265fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt08/28/0708/29/07129Genomicunknown
ss83673290KRIBB_YJKIM|KHS516094fwd/TA/Gtccaaaatgaaagccacgggtcagagagcatcagtactacaacccggtgaaagaggacgt12/04/0712/05/07130Genomicunknown
ss1097219451000GENOMES|CEU.trio.12.15.2008_429526_chr2_99577074rev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga12/15/0812/16/08130Genomicunknown
ss117802774ILLUMINA-UK|NA18507_000126085_NCBI36.1_chr2_99577074rev/BC/Tacgtcctctttcaccgggttgtagtactgatgctctctgacccgtggctttcattttgga01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1047265|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TCATCCAGGC ATCCTGAGTG CCACATGGGG CTGCCACACA CGCTTAATGC TTCCATTTTC
 CTTTTGCTTC CAGCCCATTC GTTTTCTGCT CATATACTTA GAGAAGTAAG TCAAGATAAA
 AACAGCCAGG CCCCTTTTAA GTGAGCCTGT AATGAAAGAT GTTTTGTTTG TCACCGGTTT
 TCTGCTTTCA GGCTGAACCG GCATCCTCTA ACAAGTGGCA GCTGGATAAA TGGCTAAACA
 AAGTTAATCC CCACAAGCCT CCTATTCTGA TCCAAAATGA AAGCCACGGG TCAGAGAGCA
 R
 TCAGTACTAC AACCCGGTGA AAGAGGACGT CCAGGACTGT GGGAAAGTCC CCGACGTTTG
 CCAGCCCAGC CTGAGAGAGA AGGAGATCAA GAGCACTTGC AAGGAGGAGC AAAGGCCAAG
 GACAGCCAAC AAGGCCCCTG GGAGTAAAGG CGTGAAGCAG AAGTCCCCGC CCGCGGCCGT
 GGCCGTGGCG GTGAGCGCAG CCGCCCCGCC ACCCGCAGTG CCCTGTGCGC CCGCGGAGAA
 CGCGCCCGCG CCTGCCCGGA GGTCCGCGGG CAAGAAGCCC ACCAGGCGCA CCGAGAGGAC

  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
dbSTS GenBank
CGAP-C-26262 NT_022263.1 AW167756 Hs.38070
dbSNP Blast Analysis
UniGene Cluster ID
444414

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss21580367 CEPH 184 AF 0.670 0.330
ss44141800 HapMap-CEU European 106 IG 0.566 0.415 0.019 0.317 0.774 0.226
HapMap-HCB Asian 90 IG 0.733 0.267 0.317 0.867 0.133
HapMap-JPT Asian 88 IG 0.750 0.250 0.371 0.875 0.125
HapMap-YRI Sub-Saharan African 120 IG 0.833 0.167 0.527 0.917 0.083
AoD_African_American 90 AF 0.970 0.030
AoD_Caucasian 93 AF 0.772 0.228
ss68822415 HapMap-CEU European 120 GF 0.633 0.350 0.017 0.808 0.192
HapMap-HCB Asian 90 GF 0.733 0.267 0.867 0.133
HapMap-JPT Asian 90 GF 0.756 0.244 0.878 0.122
HapMap-YRI Sub-Saharan African 120 GF 0.817 0.183 0.908 0.092
Concordant Genotype Total Sample A/A A/G G/G
ss44141800 1206
ss68822415 269
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs1047265 1207
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5294 ss44141800 T/T CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 r27_ch2_YRI_illumina:human_1m_beadchip 357612
5294 ss68822415 C/T CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 chr2-HapMap-YRI
Genotype data submitted for1207 samples from1207 individualsIndividual with multiple genotypes submission:270

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .