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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2255991          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
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_012413.3:c.160C>T
NP_036545.1:p.Arg54Trp
NT_022184.14:g.16395904C>T
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 ss14487072 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2255991 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
ss3248989YUSUKE|IMS-JST059074fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg09/05/0110/10/03100Genomicunknown
ss3331852TSC-CSHL|TSC1539029rev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg09/20/0110/10/03100Genomicunknown
ss6431032WI_SSAHASNP|NT_005367.11_4222692rev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg02/12/0310/10/03111Genomicunknown
ss14487072WUGSC_SSAHASNP|chr2.NT_022184.13_16395904byFreqrev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg11/05/0310/25/06119Genomicunknown
ss48409937APPLERA_GI|hCV16219152byFreqfwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg09/28/0511/03/06126Genomicunknown
ss65726369ILLUMINA|Human1-rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg10/10/0610/10/06127Genomicunknown
ss66452209AFFY|SNP_A-2220527byFreqfwd/TA/Gccttctgcaatttgccaagagccgatgaattc10/29/0608/14/07127Genomicunknown
ss66836283ILLUMINA|HumanHap300v1.1_rs2255991fwd/BA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg11/09/0611/09/06127Genomicunknown
ss67238732ILLUMINA|HumanHap550v1.1_rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg11/14/0611/14/06127Genomicunknown
ss67635229ILLUMINA|HumanHap650Yv1.0_rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg11/14/0611/14/06127Genomicunknown
ss68810086PERLEGEN|PGP04510882byFreqrev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg01/30/0708/14/07127Genomicunknown
ss69355798BROAD_DGAP|Broad11896092rev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg02/16/0702/16/07127Genomicunknown
ss70717066ILLUMINA|HumanHap550v3.0__rs2255991rev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg04/20/0703/30/08130Genomicunknown
ss71285144ILLUMINA|HumanHap650Yv3.0_rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg04/23/0704/23/07127Genomicunknown
ss75897900ILLUMINA|ILMN_Human_1M_rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg08/28/0708/29/07129Genomicunknown
ss76243257AFFY|AFFY_6_1M_SNP_A-2220527fwd/TA/Gccttctgcaatttgccaagagccgatgaattc08/28/0708/30/07129Genomicunknown
ss79123985ILLUMINA|HumanHap300v2.0_rs2255991fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg04/18/0711/18/07130Genomicunknown
ss84011257KRIBB_YJKIM|KHS601154fwd/TA/Gcagagatactggtgccttctgcaatttgccaagagccgatgaattcaaaatggctggctg12/04/0712/06/07130Genomicunknown
ss85808438HGSV|Cor18517_SNV_20070510.chr2_37491622rev/BC/Tcagccagccattttgaattcatcggctcttggcaaattgcagaaggcaccagtatctctg12/06/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2255991|allelePos=201|totalLen=701|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TATTAGACAC CTCAGAACTT CAGCCATAAC ATTATCCCTC ATGAGAAAGC ACAGTATTCA
 CACAAGCTTG AGGTTTGTGT CCCATGTTCT CACCTGACGA GCAGCATAGC TTCCAGGGGA
 TCCCGGGTAT CGCTCTATCA GCAATGGCTG TAAGTCATTT TGCCACATTT CAGAGATACT
 GGTGCCTTCT GCAATTTGCC
 R
 AAGAGCCGAT GAATTCAAAA TGGCTGGCTG GTGGTAATTC TGAGGATTGA ATGAAATCAT
 TTAACTAGCT ATCCTTTCAT AACATGTTTA AGACTCTGAC ATGTTTTCAA TTAATTGCTT
 AAAACTTCAA AATAAGGGAG AACTTTATGT CAAATGAGGT AAATTAAACT ACTCAACTTT
 AAAATTGGGC TGTTAGggct gggcacggtg gctcaagcct gtaatcccag cactttggga
 ggctgaggca agaggactgc ttgagcccag gaatttgaga ccagccctgg caacataatg
 agaccttatc tctacaaaaa atgaaaaaat tagatgggcg tggtgacgca ttggtgcatg
 cccgttgttc tagctactta ggaggctgag gtgggaggat tgcttgagcc caggaggtca
 aggttgcagt gagctgtgtt actgagccct ccagctgggc aacagaagga gaccctgtct
 cagtaaaaaT TTTAAAAATA

  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
79033

  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
ss14487072 HapMap-CEU European 120 IG 0.017 0.983 1.000 0.008 0.992
HapMap-HCB Asian 90 IG 0.156 0.400 0.444 0.403 0.356 0.644
HapMap-JPT Asian 88 IG 0.045 0.500 0.455 0.200 0.295 0.705
HapMap-YRI Sub-Saharan African 120 IG 0.067 0.933 1.000 0.033 0.967
ss48409937 AGI_ASP population multiple 78 IG 0.051 0.949 1.000 0.026 0.974
ss66452209 HapMap-CEU European 118 GF 0.017 0.983 0.008 0.992
HapMap-HCB Asian 90 GF 0.156 0.400 0.444 0.356 0.644
HapMap-JPT Asian 90 GF 0.044 0.489 0.467 0.289 0.711
HapMap-YRI Sub-Saharan African 120 GF 0.067 0.933 0.033 0.967
ss68810086 HapMap-CEU European 120 GF 0.017 0.983 0.008 0.992
HapMap-HCB Asian 90 GF 0.156 0.400 0.444 0.356 0.644
HapMap-JPT Asian 90 GF 0.044 0.489 0.467 0.289 0.711
HapMap-YRI Sub-Saharan African 120 GF 0.067 0.933 0.033 0.967
ss76243257 ICMHP 10 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.244+/-0.250 1163 953 270 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 YES UNKNOWN

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Revised: May 25, 2006 1:38 PM .