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Reference SNP (refSNP) Cluster Report: rs28358280                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/151
Map to Genome Build:108/Weight
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
NA
HGVS Names
  • J01415.2:m.10550A>C
  • J01415.2:m.10550A>G
  • J01415.2:m.10550A>T
  • NC_012920.1:m.10550A>C
  • NC_012920.1:m.10550A>G
  • NC_012920.1:m.10550A>T
  • YP_003024034.1:p.Met27=
  • YP_003024034.1:p.Met27Ile
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 ss37044430 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28358280 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
ss35286370SSAHASNP|TA-079.chrM_10551fwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata03/11/05125Genomicunknown
ss37044430BROAD|mt10550byFreqfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata04/25/0509/05/14125Genomicunknown
ss66863423ILLUMINA|HumanHap550v1.1_MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata11/14/0611/14/06127Genomicunknown
ss66931936ILLUMINA|HumanHap650Yv1.0_MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata11/14/0611/14/06127Genomicunknown
ss68074731ILLUMINA|HumanHap250Sv1.0_MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata12/06/0612/07/06127Genomicunknown
ss70458785ILLUMINA|HumanHap550v3.0__MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata04/20/0703/29/08130Genomicunknown
ss70979325ILLUMINA|HumanHap650Yv3.0_MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata04/23/0704/23/07127Genomicunknown
ss75910263ILLUMINA|ILMN_Human_1M_MitoA10551Gfwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata08/28/0708/29/07129Genomicunknown
ss105106187KRIBB_YJKIM|KHS1498510fwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata07/10/0807/11/08130Genomicunknown
ss152536544ILLUMINA|Human610_Quadv1_B_MitoA10551G-13273286_T_F_1501342500fwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata06/18/0906/19/09131Genomicunknown
ss159102659ILLUMINA|Human660W-Quad_v1_A_MitoA10551G-13273286_T_F_1501342500fwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata07/06/0907/06/09131Genomicunknown
ss169133591ILLUMINA|Human1M-Duov3_B_MitoA10551G-13273286_T_F_1501342500fwd/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata10/01/0910/01/09135Genomicunknown
ss410884031ILLUMINA|Cardio-Metabo_Chip_11395247_A_mt10550rev/TA/Gaggaatactagtatatcgctcacacctcattcctccctactatgcctagaaggaataata06/07/1106/07/11147Genomicunknown
ss479152845ILLUMINA|HumanOmni2.5-4v1_B_MitoA10551G-2_T_F_1773357620fwd/TA/Gtactagtatatcgctcacacctcattcctccctactatgcctagaaggaa01/30/1210/29/16137Genomicunknown
ss484376860ILLUMINA|HumanOmni2.5-4v1_D_MitoA10551G-0_T_F_1852726286fwd/TA/Gtactagtatatcgctcacacctcattcctccctactatgcctagaaggaa01/30/1210/28/16142Genomicunknown
ss536559234ILLUMINA|HumanOmni5-4v1_B_MitoA10551G-0_T_F_1852726286fwd/TA/Gtactagtatatcgctcacacctcattcctccctactatgcctagaaggaa06/22/1208/28/15147Genomicunknown
ss1711594869EVA_MGP|EVA_XIMO_710629fwd/TA/Gtactagtatatcgctcacacctcattcctccctactatgcctagaaggaa03/09/1503/09/15147Genomicunknown
ss1958161339ILLUMINA|MitoA10551G-0_T_F_1852726286fwd/TA/Gtactagtatatcgctcacacctcattcctccctactatgcctagaaggaa11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28358280|allelePos=312|totalLen=575|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=147
 ACCTTCTTAT TATTTGATCT AGAAATTGCC CTCCTTTTAC CCCTACCATG AGCCCTACAA
 ACAACTAACC TGCCACTAAT AGTTATGTCA TCCCTCTTAT TAATCATCAT CCTAGCCCTA
 AGTCTGGCCT ATGAGTGACT ACAAAAAGGA TTAGACTGAN CNGAATTGGT ATATAGTTTA
 AACAAAACGA ATGATTTCGA CTCATTAAAT TATGATAATC ATATNTACCA AATGCCCCTC
 ATTTACATAA ATATTATACT AGCATTTACC ATCTCACTTC TAGGAATACT AGTATATCGC
 TCACACCTCA T
 N
 TCCTCCCTAC TATGCCTAGA AGGAATAATA CTATCGCTGT TCATTATAGC TACTCTCATA
 ACCCTCAACA CCCACTCCCT CTTAGCCAAT ATTGTGCCTA TTGCCATACT AGTCTTTGCC
 GCCTGCGAAG CAGCGGTNGG CCTAGCCCTA CTAGTCTCAA TCTCCAACAC ATATGGCCTA
 GACTACGTAC ATAACCTAAA CCTACTCCAA TGCTAAAACT AATCGTCCCA ACAATTATAT
 TACTACCACT GACATGACTN TCC

  NCBI Resource Links back to top
Submitter-Referenced
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
ss37044430HapMap-CEUEuropean 226IG0.964601760.035398230.001000000.964601760.03539823
HapMap-HCBAsian 88IG1.00000000 1.00000000
HapMap-JPTAsian 90IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
HAPMAP-GIH 176IG0.988636370.011363640.001000000.988636370.01136364
HAPMAP-MKK 286IG0.979020950.020979020.001000000.979020950.02097902
HAPMAP-TSI 176IG0.909090940.090909090.001000000.909090940.09090909

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.054+/-0.1550000

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