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Reference SNP (refSNP) Cluster Report: rs28358571                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/141
Map to Genome Build:106/Weight
Validation Status:byClusterbyFreq
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:T
Variation Viewer:Link to VarView pending
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.019/20
MAF Source:1000 Genomes
HGVS Names
  • NC_012920.1:m.1189T>C
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss37044360 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28358571 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
ss35469457SSAHASNP|TA-079.chrM_1191fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat03/11/05125Genomicunknown
ss37044360BROAD|mt1189fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat04/25/0507/21/05125Genomicunknown
ss66863555ILLUMINA|HumanHap550v1.1_MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat11/14/0611/14/06135Genomicunknown
ss66932200ILLUMINA|HumanHap650Yv1.0_MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat11/14/0611/14/06135Genomicunknown
ss68074863ILLUMINA|HumanHap250Sv1.0_MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat12/06/0612/07/06135Genomicunknown
ss69268923PERLEGEN|PGP14523845byFreqfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat01/30/0703/31/08131Genomicunknown
ss70458907ILLUMINA|HumanHap550v3.0__MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat04/20/0703/29/08135Genomicunknown
ss70979447ILLUMINA|HumanHap650Yv3.0_MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat04/23/0704/23/07135Genomicunknown
ss75919626ILLUMINA|ILMN_Human_1M_MitoT1191Cfwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat08/28/0708/29/07135Genomicunknown
ss152537092ILLUMINA|Human610_Quadv1_B_MitoT1191C-13273530_B_F_1501342336fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat06/18/0906/19/09131Genomicunknown
ss159102761ILLUMINA|Human660W-Quad_v1_A_MitoT1191C-13273530_B_F_1501342336fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat07/06/0907/06/09131Genomicunknown
ss159849708ILLUMINA|HumanOmni1-Quad_v1-0_B_MitoT1191C-13273530_B_F_1501342336fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat08/04/0910/01/09131Genomicunknown
ss169135165ILLUMINA|Human1M-Duov3_B_MitoT1191C-13273530_B_F_1501342336fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat10/01/0910/01/09135Genomicunknown
ss244316803LMM-PCPGM|3663094fwd/BC/Taaaactcaaaggacctggcggtgcttcataccctctagaggagcctgttctgtaatcgat06/15/1006/15/10136Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28358571|allelePos=307|totalLen=710|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=136
 TTTCGTGCCA GCCACCGCGG TCACACGATT AACCCAAGTC AATAGAANCC GGCGTAAAGA
 GTGTTTTAGA TCACCCCCTC CCCAATAAAG CTAAAACTCA CCTGAGTTGT AAAAAACTCC
 AGTTGACACA AAATANACTA CGAAAGTGGC TTTAACATAT CTGAACACAC AATAGCTAAG
 ACCCAAACTG GGATTAGATA CCCCACTATG CTTAGCCCTA AACCTCAACA GTTAAATCAA
 CAAAACTGCT CGCCAGAACA CTACGAGCCA CAGCTTAAAA CTCAAAGGAC CTGGCGGTGC
 TTCATA
 Y
 CCCTCTAGAG GAGCCTGTTC TGTAATCGAT AAACCCCGAT CAACCTCACC ACCNCTTGCT
 CAGCCTATAT ACCGCCATCT TCAGCAAACC CTGATGAAGG CTACAAAGTA AGCGCAAGTA
 CCCACGTAAA GACGTTAGGT CAAGGTGTAG CCCATGAGGT GGCAAGAAAT GGGCTACATT
 TTCTACCCCA GAAAACTACG ATAGCCCTTA TGAAACTTAA GGGTCGAAGG TGGATTTAGC
 AGTAAACTNA GAGTAGAGTG CTTAGTTGAA CAGGGCCCTG AAGCGCGTAC ACACCGCCCG
 TCACCCTCCT CAAGTATACT TCAAAGGACA TTTAACTAAA ACCCCTACGC ATTTATATAG
 AGGAGACAAG TCGTAACATG GTAAGTGTAC TGGAAAGTGC ACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_001807.4
dbSNP Blast Analysis

  Population Diversity (in rs orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
T/T
HWPC
T
ss37044360HapMap-CEUEuropean 120IG 0.017 0.983 0.001 0.017 0.983
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 86IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.017 0.983 0.001 0.017 0.983

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.037+/-0.1300000

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

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