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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs249206          
refSNP ID: rs249206
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001004441.1:c.-190-920T>C
NT_006713.14:g.30457871A>G
Links

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 ss14658043 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs249206 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
ss322200KWOK|OVLP-000621-26287rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt06/30/0010/10/0379Genomic99 %
ss535257SC_JCM|AC008434.3_122531fwd/BC/Taactttatgagaggaagcgtggatcctattggaggtagagtgaaaggctcaaaagaaaat07/12/0010/10/0387Genomicunknown
ss1248922KWOK|OVLP-000804-509851fwd/BC/Taactttatgagaggaagcgtggatcctattggaggtagagtgaaaggctcaaaagaaaat09/02/0010/10/0392Genomic97 %
ss1835172KWOK|OVLP-000925-548053fwd/BC/Taactttatgagaggaagcgtggatcctattggaggtagagtgaaaggctcaaaagaaaat10/05/0010/10/0392Genomic97 %
ss3032130TSC-CSHL|TSC1113824fwd/BC/Taactttatgagaggaagcgtggatcctattggaggtagagtgaaaggctcaaaagaaaat06/07/0110/10/0396Genomicunknown
ss5228475TSC-CSHL|TSC1128850fwd/BC/Taactttatgagaggaagcgtggatcctattggaggtagagtgaaaggctcaaaagaaaat09/20/0210/10/03108Genomicunknown
ss14658043WI_SSAHASNP|chr5.NT_006713.13_9255645byFreqrev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt11/05/0310/25/06119Genomicunknown
ss16172390SC_SNP|NT_006713.13_9255645rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt11/18/0311/22/03120Genomicunknown
ss19617674CSHL-HAPMAP|CSHL-HuDD-200402.chr5.NT_006713.13_9255645rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt02/20/0403/04/04120Genomicunknown
ss23344584PERLEGEN|afd2944217byFreqrev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt08/10/0409/13/04123Genomicunknown
ss44596589ABI|hCV622259rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt07/19/0507/19/05126Genomicunknown
ss66466218AFFY|SNP_A-2256642byFreqrev/TA/Gctttcactctacctccaataggatccacgctt10/29/0608/14/07127Genomicunknown
ss76269613AFFY|AFFY_6_1M_SNP_A-2256642rev/TA/Gctttcactctacctccaataggatccacgctt08/28/0708/30/07129Genomicunknown
ss82298000HGSV|Cor19240_SNV_20070510.chr5_79899269rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt11/30/0712/02/07130Genomicunknown
ss84615077HGSV|Cor18517_SNV_20070510.chr5_79899269rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt12/06/0712/07/07130Genomicunknown
ss93149836BCMHGSC_JDW|JWB-1998726rev/TA/Gattttcttttgagcctttcactctacctccaataggatccacgcttcctctcataaagtt02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs249206|allelePos=352|totalLen=852|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TTTGTAAATG GACATTTATT GAATTCGTAA GTAGCAAGTA TGTTCGGATC TTTTAAaatc
 ctcacaatca tctactgtaa agtagatatt atccccattt caggggtgag gaaactaagg
 ctcagaagaa tgaCCTCCCA GAGGTTGATA ACTTGGAGAG ATCCGGAGCC CAGGTCCCTG
 ATACGCACCC TGCTGCCTCA TCTGAGCAGT CTTTAATCCC CTTTGGGGCA GCACATAGGC
 AGGGACTGGG GCAAGGGCGA CGGGCTGAAT TTTGAGTTCA AACCCATTTG TTAAGTTCTT
 CCCCACCATG GCCAGATGAT GAACTTTATG AGAGGAAGCG TGGATCCTAT T
 Y
 GGAGGTAGAG TGAAAGGCTC AAAAGAAAAT AACTTTTCCT TCttttcttt tcttttcttt
 tttttttttt ttgagacgga gtcttgcttt tgtcacccgg gctggagtgc agtggtgcaa
 tctcggctca ctgcaacctc cgcctcccga gttcaagtga ttctcctgcc tcagcctcct
 gagtagctgg gattacaggc acccgccaca atgcccggct aatttttgta tttgtagtag
 agatggagtt tcaccatgct gtccaggctg gtctcaaact cttgacctca gttgatccgc
 tccccctcgg cctcccaaag tgctgggatt acaggcatga gccaccatgc ccggccACTT
 TTCTGCCTTA ATGAAAGGAA AACTGGGGGT GGCATGGGGA CAAAAAGCCA CAGGAAAGGC
 CTGGCCTATC GTCTCCAAGA TGGCTTTGCA AGCACCTCAG CTCATGCAGC ACTGCCATGT
 GAGATAACAC ACAAATCAGG

  GeneView back to top
GeneView via analysis of contig annotation: ANKRD34B ankyrin repeat domain 34B
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_006713->NM_001004441
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006713->NM_001004441->NP_00100444130457871reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs249206 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_001838951.1915352075071629minusGalt_assembly_8HuRefHuRefview351
5NW_922729.1916466075764816minusGalt_assembly_1CeleraCeleraview351
5NT_006713.143045787179899269minusAref_assemblyreferencereferenceview351

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006713 AC018764 AC018764.5
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss14658043HapMap-CEUEuropean 120IG 0.767 0.217 0.017 1.000 0.875 0.125
HapMap-HCBAsian 90IG 0.956 0.044 1.000 0.978 0.022
HapMap-JPTAsian 90IG 0.978 0.022 1.000 0.989 0.011
HapMap-YRISub-Saharan African 120IG 0.433 0.500 0.067 0.251 0.683 0.317
ss23344584AFD_EUR_PANELEuropean 48IG 0.833 0.167 0.752 0.917 0.083
AFD_AFR_PANELAfrican American 46IG 0.348 0.565 0.087 0.317 0.630 0.370
AFD_CHN_PANELAsian 48IG 0.958 0.042 1.000 0.979 0.021
ss66466218HapMap-CEUEuropean 118GF 0.763 0.220 0.017 0.873 0.127
HapMap-HCBAsian 90GF 0.956 0.044 0.978 0.022
HapMap-JPTAsian 90GF 0.978 0.022 0.989 0.011
HapMap-YRISub-Saharan African 120GF 0.433 0.500 0.067 0.683 0.317

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.236+/-0.2503322602690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .