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Reference SNP (refSNP) Cluster Report: rs150073306                 ** With untested allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
MAF/MinorAlleleCount:C=0.0009/99 (ExAC)
C=0.0008/4 (1000 Genomes)
C=0.0006/7 (GO-ESP)
C=0.0009/116 (TOPMED)
HGVS Names
  • CM000663.2:g.25301618G>C
  • NC_000001.10:g.25628109G>C
  • NC_000001.11:g.25301618G>C
  • NG_007494.1:g.34129G>C
  • NM_001127691.2:c.733G>C
  • NM_001282867.1:c.235G>C
  • NM_001282868.1:c.733G>C
  • NM_001282869.1:c.733G>C
  • NM_001282870.1:c.733G>C
  • NM_001282871.1:c.733G>C
  • NM_001282872.1:c.733G>C
  • NM_001321772.1:c.-67+35422C>G
  • NM_016124.4:c.733G>C
  • NP_001121163.1:p.Val245Leu
  • NP_001269796.1:p.Val79Leu
  • NP_001269797.1:p.Val245Leu
  • NP_001269798.1:p.Val245Leu
  • NP_001269799.1:p.Val245Leu
  • NP_001269800.1:p.Val245Leu
  • NP_001269801.1:p.Val245Leu
  • NP_057208.2:p.Val245Leu
  • NR_135787.1:n.1215+35422C>G
  • NR_135788.1:n.277+36360C>G
  • NR_135789.1:n.1215+35422C>G
  • XP_005246016.1:p.Val245Leu
  • XP_005246017.1:p.Val245Leu
  • XP_005246018.1:p.Val245Leu
  • XP_005246019.1:p.Val245Leu
  • XP_005246020.1:p.Val245Leu
  • XP_016857504.1:p.Val245Leu
  • XR_946736.1:n.888G>C
  • XR_946737.1:n.888G>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 ss341945923 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs150073306 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
ss341945923NHLBI-ESP|ESP2500-chr1-25628109byFreqfwd/C/Gaagaatgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccatctcag03/25/1109/05/14134Genomicunknown
ss4886579651000GENOMES|20110521_exome_5803_chr1_25628109fwd/C/Gaagaatgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccatctcag02/10/1202/13/12137Genomicunknown
ss491289441EXOME_CHIP|nonsyn_5668_chr_1_25628109fwd/C/Gaagaatgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccatctcag03/05/1203/05/12137Genomicunknown
ss491589288CLINSEQ_SNP|SNV-chr1-25500696fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat03/06/1203/12/12137Genomicunknown
ss12900894141000GENOMES|PHASE3_V1_783749fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat08/16/1408/16/14142Genomicunknown
ss1599754709EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_25628109_414713fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat03/04/1503/04/15144Genomicunknown
ss1642748742EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_25628109_414713fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat03/04/1503/04/15144Genomicunknown
ss1685398836EVA_EXAC|EVA_EXAC_194659fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat03/04/1503/04/15144Genomicunknown
ss1710896032EVA_MGP|EVA_XIMO_12784fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat03/09/1503/09/15144Genomicunknown
ss2731264838GNOMAD|exomes_rs150073306fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat05/17/1705/17/17151Genomicunknown
ss2746262132GNOMAD|coding_rs150073306fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat05/17/1705/17/17151Genomicunknown
ss2752823010GNOMAD|rs150073306fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat05/17/1705/17/17151Genomicunknown
ss2986488867SWEGEN|NC_000001.10:g.25628109G>Cfwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat05/30/1705/30/17151Genomicunknown
ss3071294150TOPMED|TOPMed_freeze_5?chr1:25,301,618fwd/C/Gtgccgtgttcaacacctactatgcttagcagtcagcgtggtgacagccat09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs150073306|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 GAGAGCTCGG AGGGGAGACG TGACTTCCCC ATCTAACTCT AAGTGACAAG GCTGAGACTC
 TCCAGCCCTA GGATTCTCAT CCAAAACCCC TCGAGGCTCA GACCTTTGGA GCAGGAGTGT
 GATTCTGGCC AACCACCCTC TCTGGCCCCC AGGCGCCCTC TTCTTGTGGA TGTTCTGGCC
 AAGTTTCAAC TCTGCTCTGC TGAGAAGTCC AATCGAAAGG AAGAATGCCG TGTTCAACAC
 CTACTATGCT
 S
 TAGCAGTCAG CGTGGTGACA GCCATCTCAG GGTCATCCTT GGCTCACCCC CAAGGGAAGA
 TCAGCAAGGT GAGCAGGGCG CTGCCCTTGG GCAGCACTTG GGTCTAACAG GACTAGCACA
 CATATTTATG CCCCTCCCCA CCCCAGGGCC AGCGTGGGTT GGGAGAGGGC ATGCCGGGTG
 GTGGAGCTGT GCCTGCCTCT ACAGTGGAGC TCTAGGTAGA ATGCTGGGTG GTCACAGTGG
 GCCTGGGACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
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 AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss1290089414EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.002300000.99769998
AMR 694AF 0.001400000.99859995
SAS 978AF 1.00000000
ss1685398836ExAc_Aggregated_Populations113182AF 0.000927710.99907231
ss341945923ESP_Cohort_Populations 4034GF0.000495790.000495790.999008420.001000000.000743680.99925631
ss491589288CSAgilent 1125GF 0.002000000.998000031.000000000.001000000.99900001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0300000

  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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