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dbSNP
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Reference SNP (refSNP) Cluster Report: rs28358584                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/151
Map to Genome Build:108/Weight
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
NA
HGVS Names
  • J01415.2:m.3480A>G
  • NC_012920.1:m.3480A>G
  • YP_003024026.1:p.Lys58=
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 ss37044373 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28358584 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
ss35414125SSAHASNP|TA-079.chrM_3481fwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc03/11/05125Genomicunknown
ss37044373BROAD|mt3480byFreqfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctnccatc04/25/0509/05/14125Genomicunknown
ss66863444ILLUMINA|HumanHap550v1.1_MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc11/14/0611/14/06127Genomicunknown
ss66931978ILLUMINA|HumanHap650Yv1.0_MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc11/14/0611/14/06127Genomicunknown
ss68074752ILLUMINA|HumanHap250Sv1.0_MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc12/06/0612/07/06127Genomicunknown
ss69268933PERLEGEN|PGP14523407byFreqfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc01/30/0703/31/08127Genomicunknown
ss70458804ILLUMINA|HumanHap550v3.0__MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc04/20/0703/29/08130Genomicunknown
ss70979344ILLUMINA|HumanHap650Yv3.0_MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc04/23/0704/23/07127Genomicunknown
ss75893162ILLUMINA|ILMN_Human_1M_MitoA3481Gfwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc08/28/0708/29/07129Genomicunknown
ss152536635ILLUMINA|Human610_Quadv1_B_MitoA3481G-13273329_T_F_1501342504fwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc06/18/0906/19/09132Genomicunknown
ss159102676ILLUMINA|Human660W-Quad_v1_A_MitoA3481G-13273329_T_F_1501342504fwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc07/06/0907/06/09132Genomicunknown
ss169133848ILLUMINA|Human1M-Duov3_B_MitoA3481G-13273329_T_F_1501342504fwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctaccatc10/01/0910/01/09132Genomicunknown
ss410884122ILLUMINA|Cardio-Metabo_Chip_11395247_A_mt3480fwd/TA/Gcttcgctgacgccataaaactcttcaccaagagcccctaaaacccgccacatctnccatc06/07/1106/07/11147Genomicunknown
ss662652559SSMP|M_3481fwd/TA/Gctgacgccataaaactcttcaccaagagcccctaaaacccgccacatcta12/14/1202/10/15142Genomicunknown
ss1711594617EVA_MGP|EVA_XIMO_710377fwd/TA/Gctgacgccataaaactcttcaccaagagcccctaaaacccgccacatcta03/09/1503/09/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28358584|allelePos=321|totalLen=673|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=147
 AGCGCCTTCC CCCGTAAATG ATATCATCTC AACTTAGNAT TATACCCACA CCCACCCAAG
 AACAGGGTTT GTTAAGATGG CAGAGCCCGG TAATCGCATA AAACTTAAAA CTTTACAGTC
 AGAGGTTCAA TTCCTCTTCT TAACAACANA CCCATGNCCA ACCTCCTACT CCTCATTGTA
 CCCATTCTAA TCGCAATGGC ATTCCTAATG CTTACCGAAC GAAAAATTCT AGGCTATATA
 CAACTACGCA AAGGCCCCAA CGTTGTAGGC CCCTACGGGC TACTACAACC CTTCGCTGAC
 GCCATAAAAC TCTTCACCAA
 R
 GAGCCCCTAA AACCCGCCAC ATCTNCCATC ACCCTCTACA TCACCGCCCC GACCTTAGCT
 CTCACCATCG CNCTTCTACT ATGAACCCCC CTCCCCATAC CCAACCCCCT GGTNAACCTC
 AACCTAGGCC TCCTATTTAT TCTAGCCACC TCTAGCCTAG CCGTTTACTC AATCCTCTGA
 TCAGGNTGAG CATCAAACTC AAACTACGCC CTNATCGGCG CACTGCGAGC AGTAGCCCAN
 ACAATCTCAT ATGAAGTCAC CCTAGCCATC ATTCTACTAT CAACATTACT AATAAGTGGC
 TCCTTTAACC TCTCCACCCT TATCACAACA CAAGAACACC TCTGATTACT CC

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
G/G
HWPA
G
ss37044373HapMap-CEUEuropean 118IG0.966101710.033898310.001000000.966101710.03389831
HapMap-HCBAsian 88IG1.00000000 1.00000000
HapMap-JPTAsian 88IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.019+/-0.0960000

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