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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2254896          
refSNP ID: rs2254896
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
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
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 ss3269546 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2254896 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
ss3269546TSC-CSHL|TSC1375531byFreqfwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc09/20/0104/07/04100Genomicunknown
ss4043896SC_JCM|U85199.1_29520fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc09/26/0110/10/03100Genomicunknown
ss6149550SC_JCM|NT_025892.9_2598498fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc01/10/0310/10/03113Genomicunknown
ss6897598WI_SSAHASNP|NT_037845.1_2819355fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc02/12/0310/10/03113Genomicunknown
ss23798293PERLEGEN|afd4493193byFreqfwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc08/10/0409/13/04123Genomicunknown
ss43671363ABI|hCV16075141fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc07/18/0507/18/05126Genomicunknown
ss65935684AFFY|SNP_A-1702463fwd/TA/Gtgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacgg10/26/0610/26/06127Genomicunknown
ss66260493AFFY|SNP_A-4290532byFreqfwd/TA/Gtgatttctctctttggtatcaaggtctggtag10/27/0608/14/07127Genomicunknown
ss76405648AFFY|AFFY_6_1M_SNP_A-4290532fwd/TA/Gtgatttctctctttggtatcaaggtctggtag08/28/0708/30/07129Genomicunknown
ss81892574HGSV|Cor18956_SNV_20070510.chr14_21345892fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc11/30/0712/01/07130Genomicunknown
ss89873063BCMHGSC_JDW|JWB-0745580fwd/TA/Gccaaatgtggcatgtgatttctctctttggtatcaaggtctggtagaacaaacggcaacc02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2254896|allelePos=150|totalLen=650|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 aaaaattttc ttttaaaagg ttgagggaaa agttgagagc agctttttca tattatttac
 ctgggccttc tataaaggcc agtaaatcct cccaaatggt ggggggcatt tccagtccac
 caaatgtggc atgtgatttc tctctttgg
 R
 tatcaaggtc tggtagaaca aacggcaacc acgcaatggc ctgctaacca ctccacctgt
 ccttgtgggg gctctgctca ccttctaggc ccttttaggc ctttgtccat catttctggc
 atttttggga ggaggtaagg tcttgtctaa ctgggacaaa gtggtcagcc cgggacccgc
 atctgtgcaa ctccatggca taatgaagtt cctgagcttg tgtctctagg cccaccttct
 tgggttctgc aaactactgc agccctcagc gccttctggc ggccgccatt cttcttcctc
 tgcgacatcc atttcctccc aaaggcacgg tgtcctccgc agctcggtga gggcttcgcc
 aaggcgcagc aggatttcta gatgttctaa agtgctttat agcccagcga ggtctgggcc
 cagagaggct gccgccatca gctcactgaa gtggggagag aaggaggttt gcAGGGCCCC
 AGCTCACCTG CCTCTCAGTG

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2254896 maps exactly once on NCBI human chromosome 14
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
14NW_925539.120817492139627plusGalt_assembly_1CeleraCeleraview149
14NW_001838110.120827902393966plusGalt_assembly_8HuRefHuRefview149
14NT_026437.11327589221345892plusGref_assemblyreferencereferenceview149

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
U85199 AE000659
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss23798293AFD_EUR_PANELEuropean 48IG 0.417 0.417 0.167 0.655 0.625 0.375
AFD_AFR_PANELAfrican American 46IG 0.217 0.435 0.348 0.584 0.435 0.565
AFD_CHN_PANELAsian 48IG 0.208 0.333 0.458 0.200 0.375 0.625
ss3269546AfAmAfrican American 12IG 0.167 0.167 0.667 0.200 0.250 0.750
CaucasianEuropean 24IG 0.333 0.500 0.167 1.000 0.583 0.417
AsianAsian 12IG 0.333 0.167 0.500 0.150 0.417 0.583
CEPHEuropean 12IG 0.333 0.667 0.655 0.167 0.833
PDpanelGlobal 48IG 0.333 0.292 0.375 0.050 0.479 0.521
HapMap-CEUEuropean 120IG 0.383 0.500 0.117 0.584 0.633 0.367
HapMap-HCBAsian 90IG 0.111 0.467 0.422 1.000 0.344 0.656
HapMap-JPTAsian 88IG 0.182 0.455 0.364 0.752 0.409 0.591
HapMap-YRISub-Saharan African 120IG 0.067 0.467 0.467 0.403 0.300 0.700
ss66260493HapMap-CEUEuropean 118GF 0.373 0.508 0.119 0.627 0.373
HapMap-HCBAsian 90GF 0.111 0.467 0.422 0.344 0.656
HapMap-JPTAsian 90GF 0.178 0.467 0.356 0.411 0.589
HapMap-YRISub-Saharan African 120GF 0.050 0.483 0.467 0.292 0.708
Concordant GenotypeTotal SampleA/AA/GG/G
ss2379829370192823
ss326954632069141109
ss662604932655412487
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs225489638082166128
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
213ss3269546A/ACSHL-HAPMAPHapMap-CEUNA07357CEPH1345.12r23_ch14_CEU_affymetrix:genotype_protocol_1100160
213ss66260493A/GCSHL-HAPMAPHapMap-CEUNA07357CEPH1345.12chr14-HapMap-CEU
242ss3269546A/ACSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02r23_ch14_CEU_affymetrix:genotype_protocol_1100160
242ss23798293A/APERLEGENAFD_EUR_PANELNA1085471_IND_CHR_14
242ss66260493A/GCSHL-HAPMAPHapMap-CEUNA10854CEPH1349.02chr14-HapMap-CEU
5288ss3269546A/ACSHL-HAPMAPHapMap-YRINA19210YOR050.03r23_ch14_YRI_affymetrix:genotype_protocol_1100160
5288ss66260493A/GCSHL-HAPMAPHapMap-YRINA19210YOR050.03chr14-HapMap-YRI
5295ss3269546A/ACSHL-HAPMAPHapMap-YRINA19221YOR058.01r23_ch14_YRI_affymetrix:genotype_protocol_1100160
5295ss66260493A/GCSHL-HAPMAPHapMap-YRINA19221YOR058.01chr14-HapMap-YRI
Genotype data submitted for395 samples from380 individualsIndividual with multiple genotypes submission:275

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .