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Reference SNP (refSNP) Cluster Report: rs12318612                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1867/22536 (ExAC)
C=0.1226/614 (1000 Genomes)
C=0.2119/2621 (GO-ESP)
C=0.1779/22334 (TOPMED)
HGVS Names
  • CM000674.2:g.11030509G>A
  • CM000674.2:g.11030509G>C
  • NC_000012.11:g.11183108G>C
  • NC_000012.12:g.11030509G>A
  • NC_000012.12:g.11030509G>C
  • NM_001291314.1:c.-126+16511C>G
  • NM_001291314.1:c.-126+16511C>T
  • NM_001291315.1:c.36+16511C>G
  • NM_001291315.1:c.36+16511C>T
  • NM_001316893.1:c.140+4273C>G
  • NM_001316893.1:c.140+4273C>T
  • NM_176885.2:c.827C>G
  • NM_176885.2:c.827C>T
  • NP_795366.2:p.Pro276Arg
  • NP_795366.2:p.Pro276Leu
  • NR_037918.2:n.477+4273C>G
  • NR_037918.2:n.477+4273C>T
  • NR_133575.1:n.371+16511C>G
  • NR_133575.1:n.371+16511C>T
  • NT_187658.1:g.229514G>A
  • NT_187658.1:g.229514G>C
  • NW_003571047.1:g.229525G>C
  • NW_003571050.1:g.229215G>A
  • NW_003571050.1:g.229215G>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 ss40148113 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12318612 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
ss18786031SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3942082fwd/TC/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag02/20/0403/04/04120Genomicunknown
ss40148113ABI|hCV12107430fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag07/16/0507/16/05126Genomicunknown
ss97286419HUMANGENOME_JCVI|1103649367274fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag03/28/0803/28/08130Genomicunknown
ss132063415ENSEMBL|ENSSNP667367fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag12/08/0810/14/09131Genomicunknown
ss160049926ILLUMINA|HumanOmni1-Quad_v1-0_B_rs12318612-128_B_R_1562624990fwd/C/Gctattagattcagctatccttcaatccaccattcatcctgatttggggaaacaagaagct08/04/0910/01/09142Genomicunknown
ss208313418BCM-HGSC-SUB|BCM_CMT_1011-2398540fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag03/15/1003/19/10132Genomicunknown
ss3371555061000GENOMES|20100804_snps_8799047_chr12_11183108fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag03/22/1103/22/11134Genomicunknown
ss480265142ILLUMINA|HumanOmni1-Quad_v1-0_C_rs12318612-131_B_R_1863599698fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct01/30/1208/28/15146Genomicunknown
ss491464405EXOME_CHIP|nonsyn_180631_chr_12_11183108fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag03/05/1203/05/12137Genomicunknown
ss491660679CLINSEQ_SNP|SNV-chr12-11074375byFreqfwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/06/1209/05/14137Genomicunknown
ss713077230NHLBI-ESP|ESP6500SI-chr12-11183108fwd/C/Gagcttcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatctaatag02/20/1302/20/13138Genomicunknown
ss989237682EVA-GONL|EVA-GONL_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct04/23/1404/25/14142Genomicunknown
ss13439107481000GENOMES|PHASE3_V1_56826457fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct08/16/1408/16/14142Genomicunknown
ss1426843780DDI|DDI_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct11/04/1411/04/14144Genomicunknown
ss1576113120EVA_GENOME_DK|EVA_GENOME_DK_snv_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct02/19/1502/19/15144Genomicunknown
ss1584080373EVA_FINRISK|EVA_FINRISK_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct02/27/1502/27/15144Genomicunknown
ss1598906940EVA_DECODE|EVA_DECODE_12_11074375_86361_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/02/1503/04/15144Genomicunknown
ss1628011837EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11183108_31436448fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/04/1503/04/15144Genomicunknown
ss1671005870EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11183108_31436448fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/04/1503/04/15144Genomicunknown
ss1690795622EVA_EXAC|EVA_EXAC_6012860fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/04/1503/04/15144Genomicunknown
ss1711321269EVA_MGP|EVA_XIMO_437029fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct03/09/1503/09/15144Genomicunknown
ss1932603237WEILL_CORNELL_DGM|SNV:chr12:11183108fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct10/16/1510/17/15147Genomicunknown
ss2155369203USC_VALOUEV|NC_000012.11:g.11183108G>Cfwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct11/17/1611/17/16150Genomicunknown
ss2351409878TOPMED|12_11183108_G/Cfwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct11/19/1611/19/16150Genomicunknown
ss2739639836GNOMAD|exomes_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct05/17/1705/17/17151Genomicunknown
ss2748815476GNOMAD|coding_rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct05/17/1705/17/17151Genomicunknown
ss2907335172GNOMAD|rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct05/22/1705/22/17151Genomicunknown
ss3009205173SWEGEN|NC_000012.11:g.11183108G>Cfwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct05/30/1705/30/17151Genomicunknown
ss3162937605TOPMED|TOPMed_freeze_5?chr12:11,030,509-01fwd/A/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct09/30/1709/30/17151Genomicunknown
ss3162937606TOPMED|TOPMed_freeze_5?chr12:11,030,509-02fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct09/30/1709/30/17151Genomicunknown
ss3349923532CSHL|rs12318612fwd/C/Gcttgtttccccaaatcaggatgaatggtggattgaaggatagctgaatct10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12318612|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 TCATACACAC ATAAACACAC ACACACATAT ATATATATTT TTTTCTAGAC TAATATTAGG
 TCAAAGGCTT TTCTAGGTAT ACGTTGGGAA ATTATTCATA CACATACAGT ATAGAAAAAC
 CAGTAAGAAA TATAAAATGT TTCATACACC ACCAGTTTGT TTTCTGCTAG AAGACACACA
 ATGCCCCTCT CATGAATCTA TGGAGATGAA GGCTTCTCTC CTTTCACCCA GTACCTCACT
 TGCCGCAAAA CTGAAAGAAA AGTCTGCTTT AGCTTCTTGT TTCCCCAAAT CAGGATGAAT
 V
 GGTGGATTGA AGGATAGCTG AATCTAATAG CTTTGCAGAA CATGAAGACA GGTTTGTTTT
 CCAGACTCCC AAAACTCCAA ACTGATATCA TTATGGACAG AAAGTAAACG GCACATAACA
 AGAGGAAAAA GATCACAGTT TGCAAAGCTT TTATGTGGAC CTTGGTGCTG GGATCTTGAG
 ATCCTTTACC ATGGAGCTGC ATCTTCTTGA GATGTTTACA CAGAGAACAG ATTAACAGCA
 AAAAACATAG CAGGGTCAGA GTGAAGGGCA CTAAGTTTCC TAGCGTGGTT ACAGTCGCAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
553663

  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/G
G/G
HWPC
G
ss132063415ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss1343910748EAS 1008AF 1.00000000
EUR 1006AF 0.273400010.72659999
AFR 1322AF 0.105100000.89489996
AMR 694AF 0.216100010.78390002
SAS 978AF 0.051100000.94889998
ss1690795622ExAc_Aggregated_Populations120982AF 0.187168340.81283164
ss40148113ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss491660679CSAgilent 537GF0.007000000.342000010.651000020.010028000.178000000.82200003
ss97286419J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.304+/-0.2440000

  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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