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Reference SNP (refSNP) Cluster Report: rs1132760                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.00004/4 (ExAC)
C=0.0002/28 (TOPMED)
HGVS Names
  • CM000663.2:g.25284731T>C
  • NC_000001.10:g.25611222T>C
  • NC_000001.11:g.25284731T>C
  • NG_007494.1:g.17242T>C
  • NM_001127691.2:c.307T>C
  • NM_001282867.1:c.-188T>C
  • NM_001282868.1:c.307T>C
  • NM_001282869.1:c.307T>C
  • NM_001282870.1:c.307T>C
  • NM_001282871.1:c.307T>C
  • NM_001282872.1:c.307T>C
  • NM_001321772.1:c.-66-37702A>G
  • NM_016124.4:c.307T>C
  • NP_001121163.1:p.Ser103Pro
  • NP_001269797.1:p.Ser103Pro
  • NP_001269798.1:p.Ser103Pro
  • NP_001269799.1:p.Ser103Pro
  • NP_001269800.1:p.Ser103Pro
  • NP_001269801.1:p.Ser103Pro
  • NP_057208.2:p.Ser103Pro
  • NR_135787.1:n.1216-37702A>G
  • NR_135788.1:n.278-37702A>G
  • NR_135789.1:n.1216-37702A>G
  • XP_005246016.1:p.Ser103Pro
  • XP_005246017.1:p.Ser103Pro
  • XP_005246018.1:p.Ser103Pro
  • XP_005246019.1:p.Ser103Pro
  • XP_005246020.1:p.Ser103Pro
  • XP_005246021.1:p.Ser103Pro
  • XP_016857504.1:p.Ser103Pro
  • XR_946736.1:n.462T>C
  • XR_946737.1:n.462T>C
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 ss71646730 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1132760 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
ss850288SC_JCM|AL139426.2_66508rev/TA/Gacctgaacagtgtgatgaccaccttcccagagggaactggctcaggaagccgtccagcag07/27/0010/10/03138Genomicunknown
ss1530454LEE|534224fwd/BC/Tctgctggacggcttcctgagccagttccctctgggaaggtggtcatcacactgttcagta09/13/0010/10/0386cDNAunknown
ss4419867LEE|e534224fwd/BC/Tctgctggacggcttcctgagccagttccctctgggaaggtggtcatcacactgttcagta04/26/0210/10/03108cDNAunknown
ss71646730SI_EXO|NT_004610.18_8435564fwd/BC/Tctgctggacggcttcctgagccagttccctctgggaaggtggtcatcacactgttcaggt05/07/0705/07/07142Genomicunknown
ss160686641ILLUMINA|HumanOmni1-Quad_v1-0_B_rs45493401-128_T_R_1562595381rev/TA/Gacctgaacagtgtgatgaccaccttcccagagggaactggctcaggaagccgtccagcag08/04/0910/04/09131Genomicunknown
ss4539390681000GENOMES|20101123_snps_106298_chr1_25611222fwd/C/Tctgctggacggcttcctgagccagttccctctgggaaggtggtcatcacactgttcaggt07/20/1107/20/11142Genomicunknown
ss481960672ILLUMINA|HumanOmni1-Quad_v1-0_C_rs45493401-131_T_R_1863332360fwd/BC/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt01/30/1208/28/15146Genomicunknown
ss1685398684EVA_EXAC|EVA_EXAC_194491fwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt03/04/1503/04/15144Genomicunknown
ss2731264628GNOMAD|exomes_rs1132760fwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt05/17/1705/17/17151Genomicunknown
ss2746262064GNOMAD|coding_rs1132760fwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt05/17/1705/17/17151Genomicunknown
ss2752821603GNOMAD|rs1132760fwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt05/17/1705/17/17151Genomicunknown
ss2986488687SWEGEN|NC_000001.10:g.25611222T>Cfwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt05/30/1705/30/17151Genomicunknown
ss3071291189TOPMED|TOPMed_freeze_5?chr1:25,284,731fwd/C/Tggacggcttcctgagccagttccctctgggaaggtggtcatcacactgtt09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1132760|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCTAAGTGCT TAATTAGCTT TAGCTCCTCT AATCCTTATC TTATCCCCAC ACGGCATGTT
 ATGTTATCCC CATTATTCAG TTGAGAACAT TGAGGCTCAA AGAGGCAAAG TAACTTGACC
 AAATACTTGT AAACGATCTT GCATGCCCCT TCCAGCTGCC ATTTAGTAAG ACTCTAATTT
 CATACCACCC TAAATCTCGT CTGCTTCCCC CTCGTCCTTC TCGCCATCTC CCCACCGAGC
 AGTTGGCCAA GATCTGACCG TGATGGCGGC CATTGGCTTG GGCTTCCTCA CCTCGAGTTT
 CCGGAGACAC AGCTGGAGCA GTGTGGCCTT CAACCTCTTC ATGCTGGCGC TTGGTGTGCA
 GTGGGCAATC CTGCTGGACG GCTTCCTGAG CCAGTTCCCT
 Y
 CTGGGAAGGT GGTCATCACA CTGTTCAGGT ATTGGGATGG TGGCTGGATC ACTTCTGGGT
 CATAGAGGGA ATGGACCCCG AAAGGACAGG TTCCAGAAGA TCTGGGATAT TGCCCCCTCT
 CTGTCTAGCA CCAGTGCTGT GCAATATTTA GGACATCCTT ATACTAAAAG ATTATTCATT
 GTTTAAAATT CAAATTAACT GGGCATCCTG TATTTTACTG GACAGCCCTA CTCCGTGTAT
 CACAAGGAAT CCAGGCCTAC ATTCCTCCTG CATCCTTTCT TTCCTGTTAT TGTCGATTAT
 GATTTTGTAA AGTTACATAA TCAATATAAG TTTATGGAAA ACGTAAGAAG GAAACACGTT
 AGACAGAGAG AAATAGACAT GCCACACCTA GAGAGACATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X54534 AL031284 Hs.108380
dbSNP Blast Analysis
3D structure mapping
NP_001121163  NP_057208  

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

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1685398684ExAc_Aggregated_Populations110910AF 0.000036070.99996394

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0060000

  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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