NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs527236045                 ** With Likely pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/151
Map to Genome Build:108/Weight
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:unknown
G:germline
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic allele [ClinVar]
NA
HGVS Names
  • J01415.2:m.15301G>A
  • NC_012920.1:m.15301G>A
  • YP_003024038.1:p.Leu185=
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 ss43551520 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs527236045 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
ss35303067SSAHASNP|TA-079.chrM_15302fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc03/11/05136Genomicunknown
ss43551520ABI|hCV32918933byFreqfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc07/18/0509/05/14136Genomicunknown
ss46525739BROAD|mt15301fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattnttgcagccctagcaacactc04/25/0507/21/05136Genomicunknown
ss66863436ILLUMINA|HumanHap550v1.1_MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc11/14/0611/14/06136Genomicunknown
ss66931962ILLUMINA|HumanHap650Yv1.0_MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc11/14/0611/14/06136Genomicunknown
ss68074744ILLUMINA|HumanHap250Sv1.0_MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc12/06/0612/07/06136Genomicunknown
ss70458797ILLUMINA|HumanHap550v3.0__MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc04/20/0703/29/08136Genomicunknown
ss70979337ILLUMINA|HumanHap650Yv3.0_MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc04/23/0704/23/07136Genomicunknown
ss75901306ILLUMINA|ILMN_Human_1M_MitoA15302Gfwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc08/28/0708/29/07136Genomicunknown
ss76713912AFFY|AFFY_6_1M_SNP_A-8575338rev/BC/Tctgcaataatgaagggaagatgaagtgaaagg08/28/0708/30/07136Genomicunknown
ss94206257BCMHGSC_JDW|JWB-3311720fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc02/26/0803/06/08136Genomicunknown
ss105106296KRIBB_YJKIM|KHS1498619fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc07/10/0807/11/08136Genomicunknown
ss152536599ILLUMINA|Human610_Quadv1_B_MitoA15302G-13273313_T_F_1501342381fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc06/18/0906/19/09136Genomicunknown
ss159102669ILLUMINA|Human660W-Quad_v1_A_MitoA15302G-13273313_T_F_1501342381fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc07/06/0907/06/09136Genomicunknown
ss163709974COMPLETE_GENOMICS|NA07022_36_chrM_15302fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc09/29/0909/29/09136Genomicunknown
ss169133742ILLUMINA|Human1M-Duov3_B_MitoA15302G-13273313_T_F_1501342381fwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcagcactc10/01/0910/01/09136Genomicunknown
ss567118086TISHKOFF|snp_chrM_15301fwd/TA/Ggattctttacctttcacttcatcttcccttcattattgcagccctagcaa11/22/1211/23/12136Genomicunknown
ss1225195455MANISHAMVMBHOPAL|NC_012920.1:m.15301G>Afwd/TA/Gcacacgattctttacctttcacttcatcttcccttcattattgcagccctagcaacactc08/11/1408/14/14141Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs527236045|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=141
 TGGCGCCTCA ATATTCTTTA TCTGCCTCTT CCTACACATC GGGCGAGGCC TATATTACGG
 ATCATTTCTC TACTCAGAAA CCTGAAACAT CGGCATTATC CTCCTGCTTG CAACTATAGC
 AACAGCCTTC ATAGGCTATG TCCTCCCGTG AGGCCAAATA TCATTCTGAG GGGCCACAGT
 AATTACAAAC TTACTATCCG CCATCCCATA CATTGGGACA GACCTAGTTC AATGAATCTG
 AGGAGGCTAC TCAGTAGACA GTCCCACCCT CACACGATTC TTTACCTTTC ACTTCATCTT
 R
 CCCTTCATTA TTGCAGCCCT AGCAGCACTC CACCTCCTAT TCTTGCACGA AACGGGATCA
 AACAACCCCC TAGGAATCAC CTCCCATTCC GATAAAATCA CCTTCCACCC TTACTACACA
 ATCAAAGACG CCCTCGGCTT ACTTCTCTTC CTTCTCTCCT TAATGACATT AACACTATTC
 TCACCAGACC TCCTAGGCGA CCCAGACAAT TATACCCTAG CCAACCCCTT AAACACCCCT
 CCCCACATCA AGCCCGAATG ATATTTCCTA TTCGCCTACA CAATTCTCCG ATCCGTCCCT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
167000

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
G
G/G
HWPA
G
ss163709974CEUEuropean 1IG 1.00000000 1.00000000
ss43551520HapMap-CEUEuropean 120IG 1.00000000 1.00000000
HapMap-HCBAsian 86IG0.53488374 0.465116290.001000000.534883740.46511629
HapMap-JPTAsian 172IG0.72093022 0.279069780.001000000.720930220.27906978
HapMap-YRISub-Saharan African 226IG0.77876109 0.221238940.001000000.778761090.22123894
HAPMAP-ASW 98IG0.59183675 0.408163280.001000000.591836750.40816328
HAPMAP-CHBAsian 82IG0.51219511 0.487804890.001000000.512195110.48780489
HAPMAP-CHD 170IG0.51764709 0.482352940.001000000.517647090.48235294
HAPMAP-GIH 176IG0.39772728 0.602272750.001000000.397727280.60227275
HAPMAP-LWK 180IG0.67777777 0.322222230.001000000.677777770.32222223
HAPMAP-MEX 100IG0.23999999 0.759999990.001000000.239999990.75999999
HAPMAP-MKK 286IG0.61538464 0.384615390.001000000.615384640.38461539
HAPMAP-TSI 176IG0.01136364 0.988636370.001000000.011363640.98863637

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-0.0050000

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