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Reference SNP (refSNP) Cluster Report: rs61735552                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0040/463 (ExAC)
A=0.0130/65 (1000 Genomes)
A=0.0128/166 (GO-ESP)
A=0.0130/1634 (TOPMED)
HGVS Names
  • CM000672.2:g.93074881C>A
  • CM000672.2:g.93074881C>T
  • NC_000010.10:g.94834638C>A
  • NC_000010.11:g.93074881C>A
  • NC_000010.11:g.93074881C>T
  • NG_008067.1:g.6407C>A
  • NG_008067.1:g.6407C>T
  • NM_000783.3:c.517C>A
  • NM_000783.3:c.517C>T
  • NM_057157.2:c.310C>A
  • NM_057157.2:c.310C>T
  • NP_000774.2:p.Arg173Cys
  • NP_000774.2:p.Arg173Ser
  • NP_476498.1:p.Arg104Cys
  • NP_476498.1:p.Arg104Ser
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 ss342303776 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs61735552 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
ss86256390CORNELL|hCV25765945byFreqfwd/TA/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc01/21/0809/05/14129Genomicunknown
ss159721057SEATTLESEQ|CYP26A1-94824628fwd/TA/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc07/10/0907/10/09131Genomicunknown
ss2248778611000GENOMES|pilot_1_YRI_6687544_chr10_94824628fwd/A/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc04/22/1004/22/10132Genomicunknown
ss342303776NHLBI-ESP|ESP2500-chr10-94834638byFreqfwd/TA/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc03/25/1109/05/14134Genomicunknown
ss482362232ILLUMINA|HumanOmni2.5-4v1_D_kgp21583677-0_B_R_1839061078fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt01/30/1210/27/16137Genomicunknown
ss482690347ILLUMINA|HumanOmni2.5-4v1_B_SNP10-94824628-0_B_R_1648029148fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt01/30/1210/28/16137Genomicunknown
ss4910011391000GENOMES|20110521_exome_508937_chr10_94834638fwd/TA/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc02/10/1202/21/12137Genomicunknown
ss491438320EXOME_CHIP|nonsyn_154546_chr_10_94834638fwd/TA/Cagcctggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggtgaagc03/05/1203/05/12137Genomicunknown
ss534615906ILLUMINA|HumanOmni5-4v1_B_kgp21583677-0_B_R_1839061078fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt06/22/1208/29/15146Genomicunknown
ss779466513ILLUMINA|HumanOmni25Exome-8v1_A_kgp21583677-0_B_R_1839061078fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/30/1307/10/15146Genomicunknown
ss780888768ILLUMINA|HumanOmni25Exome-8v1_A_exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/30/1307/10/15146Genomicunknown
ss781736272ILLUMINA|HumanOmni2.5-4v1_H_kgp21583677-0_B_R_1839061078fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/30/1307/29/15146Genomicunknown
ss783575005ILLUMINA|HumanOmniExpressExome-8v1_A_exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/31/1306/18/15146Genomicunknown
ss834936340ILLUMINA|HumanOmni2.5-8v1_A_kgp21583677-0_B_R_1839061078fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt09/18/1307/29/15146Genomicunknown
ss13385762791000GENOMES|PHASE3_V1_51277018fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt08/16/1408/16/14142Genomicunknown
ss1690002299EVA_EXAC|EVA_EXAC_5160487fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt03/04/1503/04/15144Genomicunknown
ss1751987488ILLUMINA|OmniExpressExome-8v1-1_B_exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/27/1506/09/15146Genomicunknown
ss1917849562ILLUMINA|HumanExome-12v1-1_B_exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt10/16/1510/16/15147Genomicunknown
ss1946289277ILLUMINA|HumanCoreExome-12v1-0_C_exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt10/29/1510/29/15147Genomicunknown
ss1959283792ILLUMINA|exm842399-0_B_R_1921081593fwd/TA/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt11/13/1511/13/15147Genomicunknown
ss2177052120HUMAN_LONGEVITY|HLI-10-93074881-C-Afwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt11/18/1611/18/16150Genomicunknown
ss2340161889TOPMED|10_94834638_C/Afwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt11/19/1611/19/16150Genomicunknown
ss2632746759ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp21583677-0_B_R_2131fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt02/02/1702/02/17151Genomicunknown
ss2632746760ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp21583677-0_B_R_18390610fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt02/02/1702/02/17151Genomicunknown
ss2738406332GNOMAD|exomes_rs61735552fwd/A/C/Tggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/17/1705/17/17151Genomicunknown
ss2748437443GNOMAD|coding_rs61735552fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/17/1705/17/17151Genomicunknown
ss2891997168GNOMAD|rs61735552fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/19/1705/19/17151Genomicunknown
ss2984919513AFFY|Axiom_PsorMich_Affx-3870939fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt05/24/1705/24/17151Genomicunknown
ss3021263690ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm842399-0_B_R_1921081593fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt06/28/1706/28/17151Genomicunknown
ss3127216569TOPMED|TOPMed_freeze_5?chr10:93,074,881fwd/A/Cggagcagtggctgagctgcggcgaggcggcctcctggtctaccccgaggt09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs61735552|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 GGCTAGGACC CTCTGCCAGC TCCAGGTTAG CTTTCCCAGC TCGGAGAGTG CCATGTGTCT
 GGCAGGACTG GGGGTGTCTG GAAGGGGACG GCGGTAGACG AGAGGGGCGG ATGGAGGCTT
 TTAACGCTGT CCCCTCCTCG GGACTCAGGT GATTATGCGG GCCTTCAGCC GCGAGGCACT
 CGAATGCTAC GTGCCGGTGA TCACCGAGGA AGTGGGCAGC AGCCTGGAGC AGTGGCTGAG
 CTGCGGCGAG
 H
 GCGGCCTCCT GGTCTACCCC GAGGTGAAGC GCCTCATGTT CCGAATCGCC ATGCGCATCC
 TACTGGGCTG CGAACCCCAA CTGGCGGGCG ACGGGGACTC CGAGCAGCAG CTTGTGGAGG
 CCTTCGAGGA AATGACCCGC AATCTCTTCT CGCTGCCCAT CGACGTGCCC TTCAGCGGGC
 TGTACCGGGT AAGGGCGGCA AACGGGCTGC GGACTAGGGG CGCGGGACCT GGGCGTCTGC
 TCACCGCCGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis
3D structure mapping
NP_000774  NP_476498  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss1338576279EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.046900000.95309997
AMR 694AF 0.004300000.99570000
SAS 978AF 1.00000000
ss1690002299ExAc_Aggregated_Populations121344AF 0.003898010.99610198
ss224877861pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss342303776ESP_Cohort_Populations 4278GF 0.030388030.969611940.479500000.015194020.98480600
ss86256390AGI_ASP_populationmultiple 76IG 0.052631580.947368441.000000000.026315790.97368419

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.008+/-0.0620000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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