NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs193303001                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:135/151
Map to Genome Build:108/Weight
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • J01415.2:m.15923A>G
  • NC_012920.1:m.15923A>G
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 ss43522101 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs193303001 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
ss4040109SC_JCM|AX039612.1_15924fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaaggacaa09/26/0110/10/03136Genomicunknown
ss35177916SSAHASNP|TA-079.chrM_15925fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa03/11/05136Genomicunknown
ss43522101ABI|hCV26281522byFreqfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaaggacaa07/18/0509/05/14136Genomicunknown
ss46525744BROAD|mt15924fwd/TA/Ggtagtataaantantacaccagtcttgtaaccgnanatgaaaacctttttccaaggacaa04/25/0507/21/05136Genomicunknown
ss66863439ILLUMINA|HumanHap550v1.1_MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa11/14/0611/14/06136Genomicunknown
ss66931968ILLUMINA|HumanHap650Yv1.0_MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa11/14/0611/14/06136Genomicunknown
ss68074747ILLUMINA|HumanHap250Sv1.0_MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa12/06/0612/07/06136Genomicunknown
ss70458799ILLUMINA|HumanHap550v3.0__MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa04/20/0703/29/08136Genomicunknown
ss70979339ILLUMINA|HumanHap650Yv3.0_MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa04/23/0704/23/07136Genomicunknown
ss75883265ILLUMINA|ILMN_Human_1M_MitoA15925Gfwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa08/28/0708/29/07136Genomicunknown
ss76713483AFFY|AFFY_6_1M_SNP_A-8574687fwd/TA/Gtacaccagtcttgtaaccggagatgaaaacct08/28/0708/30/07136Genomicunknown
ss104882243KRIBB_YJKIM|KHS1274561fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaaggacaa07/10/0807/10/08136Genomicunknown
ss152536610ILLUMINA|Human610_Quadv1_B_MitoA15925G-13273318_T_F_1501342143fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa06/18/0906/19/09136Genomicunknown
ss159102671ILLUMINA|Human660W-Quad_v1_A_MitoA15925G-13273318_T_F_1501342143fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa07/06/0907/06/09136Genomicunknown
ss169133772ILLUMINA|Human1M-Duov3_B_MitoA15925G-13273318_T_F_1501342143fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaaggacaa10/01/0910/01/09136Genomicunknown
ss410884100ILLUMINA|Cardio-Metabo_Chip_11395247_A_mt15924rev/BC/Tttgtccttggaaaaaggttttcatctccggttacaagactggtgtattagtttatactac06/07/1106/07/11135Genomicunknown
ss479152854ILLUMINA|HumanOmni2.5-4v1_B_MitoA15925G-2_T_F_1773357632fwd/TA/Gataaactaatacaccagtcttgtaaccggagacgaaaacctttttccaag01/30/1210/29/16136Genomicunknown
ss484376879ILLUMINA|HumanOmni2.5-4v1_D_MitoA15925G-0_T_F_1851065552fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag01/30/1210/28/16136Genomicunknown
ss491581540EXOME_CHIP|ESP.rq_297766_chr_MT_15924fwd/TA/Ggtagtataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaaggacaa03/05/1203/06/12136Genomicunknown
ss536559245ILLUMINA|HumanOmni5-4v1_B_MitoA15925G-0_T_F_1851065552fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag06/22/1208/28/15136Genomicunknown
ss662653025SSMP|M_15925fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag12/14/1202/10/15136Genomicunknown
ss780683990ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag05/30/1307/09/15136Genomicunknown
ss783357413ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag05/31/1306/19/15136Genomicunknown
ss825078039OMIM-CURATED-RECORDS|SCV000056539fwd/TA/Gtgtagtataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaaggaca06/20/1306/20/13136Genomicunknown
ss1711595139EVA_MGP|EVA_XIMO_710899fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag03/09/1503/09/15136Genomicunknown
ss1752791210ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag05/27/1506/09/15136Genomicunknown
ss1917715539ILLUMINA|HumanExome-12v1-1_B_exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag10/16/1510/16/15136Genomicunknown
ss1945966649ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag10/29/1510/29/15136Genomicunknown
ss1958161504ILLUMINA|exm-rs2853510-132_B_R_1990477607fwd/TA/Gataaactaatacaccagtcttgtaaccggagatgaaaacctttttccaag11/13/1511/13/15136Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs193303001|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=136
 GCCCTATTAC TATCCATCCT CATCCTAGCA ATAATCCCCA TCCTCCATAT ATCCAAACAA
 CAAAGCATAA TATTTCGCCC ACTAAGCCAA TCACTTTATT GACTCCTAGC CGCAGACCTC
 CTCATTCTAA CCTGAATCGG AGGACAACCA GTAAGCTACC CTTTTACCAT CATTGGACAA
 GTAGCATCCG TACTATACTT CACAACAATC CTAATCCTAA TACCAACTAT CTCCCTATTG
 AAAACAAAAT ACTCAAATGG GCCTGTCCTT GTAGTATAAA CTAATACACC AGTCTTGTAA
 R
 CCGGAGATGA AAACCTTTTT CCAAGGACAA ATCAGAGAAA AAGTCTTTAA CTCCACCATT
 AGCACCCAAA GCTAAGATTC TAATTTAAAC TATTCTCTGT TCTTTCATGG GGAAGCAGAT
 TTGGGTACCA CCCAAGTATT GACTCACCCA TCAACAACCG CTATGTATTT CGTACATTAC
 TGCCAGTCAC CATGAATATT GTACGGTACC ATAAATACTT GACCACCTGT AGTACATAAA
 AACCCAATCC ACATCAAAAC CCCCTCCCCA TGCTTACAAG CAAGTACAGC AATCAACCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000025 D38112 J01415 V00662 X62996 X93334
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
ss43522101HapMap-CEUEuropean 226IG0.982300880.017699110.001000000.982300880.01769911
HapMap-HCBAsian 86IG0.976744170.023255810.001000000.976744170.02325581
HapMap-JPTAsian 172IG0.976744170.023255810.001000000.976744170.02325581
HapMap-YRISub-Saharan African 226IG0.973451320.026548670.001000000.973451320.02654867
HAPMAP-ASW 98IG0.979591850.020408160.001000000.979591850.02040816
HAPMAP-CHBAsian 82IG0.975609780.024390240.001000000.975609780.02439024
HAPMAP-CHD 170IG0.988235290.011764710.001000000.988235290.01176471
HAPMAP-GIH 176IG0.988636370.011363640.001000000.988636370.01136364
HAPMAP-LWK 180IG0.988888860.011111110.001000000.988888860.01111111
HAPMAP-TSI 176IG0.931818190.068181820.001000000.931818190.06818182

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
-1.000+/-00000

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