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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs785274          
refSNP ID: rs785274
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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
NM_022753.2:c.1025-46G>A
NT_032977.8:g.3290552G>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 ss2021397 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs785274 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
ss940703KWOK|OVLP-000804-346693fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat09/01/0010/10/0386Genomic99 %
ss2021397KWOK|OVLP-000925-596459byFreqfwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat10/06/0010/25/0687Genomic99 %
ss2038603KWOK|OVLP-000925-586648fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat10/06/0010/10/0387Genomic98 %
ss2439477SC_JCM|AL356780.6_27549fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat11/03/0010/10/0392Genomicunknown
ss3696341SC_JCM|AC023038.2_101859fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat09/24/0110/10/03100Genomicunknown
ss5243532TSC-CSHL|TSC1762827rev/BC/Taactagtcagccaacgtcaaagtatgtgttttcag09/20/0210/10/03108Genomicunknown
ss13001811SC_SNP|NT_004511.15_3100219fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat10/22/0310/31/03119Genomicunknown
ss14766838SC_SNP|NT_004511.16_3257036fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat11/12/0311/22/03119Genomicunknown
ss16417732CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004511.16_3257036fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat02/17/0403/04/04120Genomicunknown
ss20560621SSAHASNP|WGSA-200403-chr1.chr1.NT_004511.16_3257036fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat03/18/0403/18/04121Genomicunknown
ss44058825ABI|hCV8854626fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat07/18/0507/18/05126Genomicunknown
ss77743152HGSV|Cor12156_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat10/09/0710/14/07129Genomicunknown
ss78675037HGSV|Cor12878_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat10/17/0710/20/07129Genomicunknown
ss80922034HGSV|Cor18507_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat11/26/0711/27/07130Genomicunknown
ss84907901HGSV|Cor19240_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat11/30/0712/08/07130Genomicunknown
ss85817040HGSV|Cor19129_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat12/06/0712/10/07130Genomicunknown
ss86046518HGSV|Cor18956_SNV_20070510.chr1_32987727fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat11/30/0712/11/07130Genomicunknown
ss87342604BCMHGSC_JDW|JWB-0031144fwd/TA/Gctgaaaacacatactttgacgttggctgactagttcactcagctgttcctaaccactgat02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs785274|allelePos=1772|totalLen=2339|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TCTGTAGCCT ACTGAGACTG CTTTTGATTC CCGAAAGCAC AGTAGATAAG GTAATGAAAA
 ACATGTAAAC GAGCTGAAAA GTCTCCACTG TCTAGGGCTT tgattttcaa agtgtgcttc
 tcagctgggc atagtaactc acgcctgtaa tcccagcact ttgagagagc aaggtgggtg
 gatcacttga ggtcaggagt tcaagaacag cctggccaac atggtgaaac cctgtctcta
 ctaaaaatac aaaaattagc caggcatggt ggcaggcgcc tgtaatccca gctacttagg
 aggctgaggc aggagaatca cttgaacccg ggaggaggag gttgcggtga gccgagatca
 caccactgca ctccagcctg ggtgacagag tgagactcca tctcccaccc cactacccac
 aaaaaaaaga aaaaaaaagt gtttcttaga ccaccagcat tagcatcact tgggaatttg
 cttgaaatgc aaattctcag gccctaccca gatctgtagt tttctgatta tgtataatca
 gaaagtctgg aggctaggcc cagcaatctg ttttacaata cctccagttg attataatgt
 atgttaaaat ttgcgaacca ctgGTCTAGG GAAATTATTT CCTAACTAGT GTTTTATTTC
 TGCTTCTATT GAGTTTTAGC CTAAGTCTCA ATCGTTGAGT GCAAAATTAG cattattgca
 tagtggcaag gacatggagt cacacaggag ctagttgaat cctgggtcat caagaatttc
 agggccatgc atggtggctc acacctgtaa tcctagcact ttgggaggat catttgaggt
 caggaattgg agtccagcct cgccaacatg atgaaacccc atctctacta aaaatataaa
 aattagcctg gcatggtgat aggcgcctgt agtcccagct acccaggagg ctgaggcagg
 ggaatcactt gaacccagga ggcagaggtt gcagtgaacc gaaatcatgc cattgcactc
 tagcctggac gacagagcaa gactctgtct caaaaaaaaa aaaagtattt caggcaagtt
 cacctcccat agtttcccat ctttgaaatg atattaataa catctatctc catgtaagat
 tttttttaga attaagtaag ataatatgta aagtgtctag tacattgcta ggATCCCAGG
 TGTTTGAGAA ATTGCATCTA GCAATTTTTC TTGTTAGCAA AGAGCGCCCA CCTCCATCTG
 TTCTAAACTC CTCTTGTTTC TTGAATGTAT TTGCTGTCTT TTGTCTCTGG GGCTTTGTAT
 TAACTGTTAT CTTTTGGCAT CCAACCTCCT ACCCCTCTTT ACCTCACTAA TTTTATACAT
 CCTTTAGATC CCTGCTATAG TTACTCCCCC TGGAGGGGGC TTTCCCTAAC CCCCACCCCC
 CCAGTCTCTA TAGCAGTCTG TATTTCTATC ACTGCATTTA TCACACCACT TTGGAATCAT
 CTGTCTCCTG tataaacttc attgaggtag tgtcttgttc actgccatat tcctagggac
 aagtaaagtt ccctgtatat tgtaggagct aagtgttgaa tgaatgaatG GTGGCTGCTA
 TTATTGCTTC ACCTTCACCC TCCAAGAGTA ATCTCCCCAT TCTGGTTTAT AGTTTCTGTG
 CTCACTGCTT GTGATAATCG TAAGTATATA TTGTTGAGAA CAGTGCCTGT TTTCTCTTTC
 CCTGAAAACA CATACTTTGA CGTTGGCTGA C
 R
 TAGTTCACTC AGCTGTTCCT AACCACTGAT CCCTCTGTAT CACAGGTATC TCGGGGGAGC
 TTTGTGCCTT GATGGATCAA GTTCATCATA TGCAGCACTC AAAATGGCAG CATCCTTCGG
 ACCTCACCAC GCGGTGAGTG GGTGATTAGA AGAAGATGGA AAAGGGTAGA ATggctgggc
 gcggtggctc acacctgtaa tcccagcact ttgggtggcc aaggtgggtg ggtcatttga
 ggtcaggagt ttgagaccat cctggctaac atggtgaaac cccatatcta ccaaaaatac
 aaaaattagc tggtgtggtg gcaagcatct gtagtcccag cctcaggagg ctgaggcagg
 acagttgctt gaatctggtg gcgaaggttg cagtgagcca agatggtgcc actgtactca
 agcctgggcg gcagagcaag actccgtcta aaaaaaaaaa aagaaaaGGC GGTGGGGGGG
 GCGCGTGAAA TTTGGCTGCA GGAGGAATGT AGTGGGGAGT AGGGGTTGGA ATTGTTTAAT
 TCAAGAGGCA GGGGGAAAAA GTGATGC

  GeneView back to top
GeneView via analysis of contig annotation: S100PBP S100P binding protein
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_032977->NM_022753
svfunction
HuRefNW_001838577->NM_022753
svfunction
CeleraNW_921351->NM_022753
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_032977->NM_022753->NP_0735903290552forwardintron
HuRefNW_001838577->NM_022753->NP_0735909834261reverseintron
CeleraNW_921351->NM_022753->NP_0735907448134forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs785274 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838577.2983426131434237minusTalt_assembly_8HuRefHuRefview1771
1NW_921351.1744813431587276plusAalt_assembly_1CeleraCeleraview1771
1NT_032977.8329055233091221plusGref_assemblyreferencereferenceview1771

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004511 AL137791 AL137791.13 AL137791.5 AL356459 AL356780 AL356780.6
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC114493.3 AL137791.19 NC_000001.9 AC023038.2

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
HWPA
G
ss2021397CEPH 184AF 1.000
HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 116IG 0.966 0.034 1.000 0.983 0.017
ss940703SC_12_AAAfrican American 20IG 1.000 1.000
SC_12_CEuropean 14IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.009+/-0.06629222320

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .