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dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs61731861                 
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0036/434 (ExAC)
C=0.0020/10 (1000 Genomes)
C=0.0038/49 (GO-ESP)
C=0.0027/345 (TOPMED)
HGVS Names
  • CM000663.2:g.11650003T>A
  • CM000663.2:g.11650003T>C
  • NC_000001.10:g.11710060T>C
  • NC_000001.11:g.11650003T>A
  • NC_000001.11:g.11650003T>C
  • NM_012168.5:c.463A>G
  • NM_012168.5:c.463A>T
  • NP_036300.2:p.Ser155Cys
  • NP_036300.2:p.Ser155Gly
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 ss341932883 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs61731861 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
ss86244033CORNELL|hCV25604085fwd/BC/Tcgctctcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctccagcc01/21/0809/29/10129Genomicunknown
ss2174105131000GENOMES|pilot_3_TSI_16_chr1_11632647fwd/BC/Tcgctctcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctccagcc04/09/1004/09/10132Genomicunknown
ss341932883NHLBI-ESP|ESP2500-chr1-11710060byFreqfwd/BC/Tcgctctcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctccagcc03/25/1109/05/14134Genomicunknown
ss4886519331000GENOMES|20110521_exome_2789_chr1_11710060fwd/BC/Tcgctctcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctccagcc02/10/1202/13/12137Genomicunknown
ss491286196EXOME_CHIP|nonsyn_2423_chr_1_11710060fwd/BC/Tcgctctcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctccagcc03/05/1203/05/12137Genomicunknown
ss491584485CLINSEQ_SNP|SNV-chr1-11632647byFreqfwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc03/06/1209/05/14137Genomicunknown
ss780747699ILLUMINA|HumanOmni25Exome-8v1_A_exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/30/1307/09/15142Genomicunknown
ss783425533ILLUMINA|HumanOmniExpressExome-8v1_A_exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/31/1306/18/15142Genomicunknown
ss974858974EVA-GONL|EVA-GONL_rs61731861fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc04/23/1404/23/14142Genomicunknown
ss12896965541000GENOMES|PHASE3_V1_375281fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc08/16/1408/16/14142Genomicunknown
ss1584217167EVA_DECODE|EVA_DECODE_1_11632647_87900_rs61731861fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc03/02/1503/02/15144Genomicunknown
ss1599555186EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_11710060_194330fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc03/04/1503/04/15144Genomicunknown
ss1642549219EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_11710060_194330fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc03/04/1503/04/15144Genomicunknown
ss1685301750EVA_EXAC|EVA_EXAC_91133fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc03/04/1503/04/15144Genomicunknown
ss1751865782ILLUMINA|OmniExpressExome-8v1-1_B_exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/27/1506/09/15146Genomicunknown
ss1917722667ILLUMINA|HumanExome-12v1-1_B_exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc10/16/1510/16/15147Genomicunknown
ss1945984696ILLUMINA|HumanCoreExome-12v1-0_C_exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc10/29/1510/29/15147Genomicunknown
ss1958241446ILLUMINA|exm14849-0_B_F_1921570501fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc11/13/1511/13/15147Genomicunknown
ss2019543200JJLAB|SNP45755fwd/BC/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc08/29/1608/30/16149Genomicunknown
ss2160076990HUMAN_LONGEVITY|HLI-1-11650003-T-Cfwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc11/18/1611/18/16150Genomicunknown
ss2731117091GNOMAD|exomes_rs61731861fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/17/1705/17/17151Genomicunknown
ss2746214283GNOMAD|coding_rs61731861fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/17/1705/17/17151Genomicunknown
ss2751661206GNOMAD|rs61731861fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/17/1705/17/17151Genomicunknown
ss2984845247AFFY|Axiom_PsorMich_Affx-35310717fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/24/1705/24/17151Genomicunknown
ss2986301566SWEGEN|NC_000001.10:g.11710060T>Cfwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc05/30/1705/30/17151Genomicunknown
ss3021054491ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm14849-0_B_F_1921570501fwd/C/Ttcatcgtgggtgaactccaccccacgtctccaggcagctcctccaccctc06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs61731861|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 CCCATGCCAC CCCAGGACCC TCTCACCAGT CCTTCACCAC GATGGCCGGC TGAGTCGTGT
 CCAGCAGCTC CTCCCAGTAG CCCTCAGCCT GCAGGTCAAT GACCTGTGCT TTGCGACACC
 ACCTGGGAGA ACTGGAGTTA GGACAGAGCG AACGCTCCCC CCTTCCCACC TCCTCCACCC
 CCTTCTCCTT ACTCAAAGGA GGAGGCGAAG TACTTCTTGA CGCTCTCATC GTGGGTGAAC
 TCCACCCCAC
 H
 GTCTCCAGGC AGCTCCTCCA CCCTCCAGCC GTCCCCACCA TGCTCCACGT CACACCAGCC
 TTCCAAGTCC TCTGTAGGGA CACGACAGCC CCACCCTGGT CACTCAGTCC CTGCTAAGGC
 TGGCTCTTGC CACTATGTGG TGGGGGGCAG GGCAAAGGTC GCACTTGGTG TCTTGGTGGG
 CAGATGATGA ATGAGAGGGT GGACCAGTGG GCAGTTTCTA AATCTGCCTC CCGGGAGGTA
 TGTCCCCCAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_036300  

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1289696554EAS 1008AF 1.00000000
EUR 1006AF 0.003000000.99699998
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.007200000.99280000
ss1685301750ExAc_Aggregated_Populations121412AF 0.003574610.99642539
ss217410513pilot_3_TSI_exon_capture_panel 130AF 0.007692310.99230766
ss341932883ESP_Cohort_Populations 4552GF 0.007029880.992970111.000000000.003514940.99648505
ss491584485CSAgilent 1315GF 0.012000000.988000041.000000000.006000000.99400002
ss86244033AGI_ASP_populationmultiple 78IG 0.025641030.974358981.000000000.012820510.98717946

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.007+/-0.0590000

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