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Reference SNP (refSNP) Cluster Report: rs72547516                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0012/148 (ExAC)
G=0.0004/2 (1000 Genomes)
G=0.0005/6 (GO-ESP)
G=0.0004/50 (TOPMED)
HGVS Names
  • CM000677.2:g.74752237A>G
  • CM000677.2:g.74752237A>T
  • NC_000015.10:g.74752237A>G
  • NC_000015.10:g.74752237A>T
  • NC_000015.9:g.75044578A>G
  • NG_008431.2:g.34696A>G
  • NG_008431.2:g.34696A>T
  • NM_000761.4:c.1156A>G
  • NM_000761.4:c.1156A>T
  • NP_000752.2:p.Ile386Phe
  • NP_000752.2:p.Ile386Val
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 ss342408580 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs72547516 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
ss105434106AFFY_DM3_1|DMET3B10799fwd/A/Tttccgacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggttctgc09/03/0809/03/08130Genomicunknown
ss342408580NHLBI-ESP|ESP2500-chr15-75044578byFreqfwd/TA/Gttccgacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggttctgc03/25/1109/05/14134Genomicunknown
ss491497297EXOME_CHIP|nonsyn_213523_chr_15_75044578fwd/TA/Gttccgacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggttctgc03/05/1203/05/12137Genomicunknown
ss491704189CLINSEQ_SNP|SNV-chr15-72831631fwd/TA/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt03/06/1203/13/12137Genomicunknown
ss13541274761000GENOMES|PHASE3_V1_67486935fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt08/16/1408/16/14142Genomicunknown
ss1577703189EVA_GENOME_DK|EVA_GENOME_DK_snv_rs72547516fwd/TA/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt02/19/1502/19/15144Genomicunknown
ss1584095263EVA_FINRISK|EVA_FINRISK_rs72547516fwd/TA/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt02/27/1502/27/15144Genomicunknown
ss1691925945EVA_EXAC|EVA_EXAC_7236445fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt03/04/1503/04/15144Genomicunknown
ss1691925946EVA_EXAC|EVA_EXAC_7236446fwd/A/Tacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt03/04/1503/04/15144Genomicunknown
ss1695981800EVA_DECODE|EVA_DECODE_15_72831631_396382_rs72547516fwd/TA/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt03/02/1503/04/15144Genomicunknown
ss2028461533JJLAB|SNP8964088fwd/TA/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt08/29/1608/31/16149Genomicunknown
ss2208165010HUMAN_LONGEVITY|HLI-15-74752237-A-G,Tfwd/A/G/Tacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt11/18/1611/18/16150Genomicunknown
ss2372617456TOPMED|15_75044578_A/Gfwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt11/19/1611/19/16150Genomicunknown
ss2741398953GNOMAD|exomes_rs72547516fwd/A/G/Tacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/17/1705/17/17151Genomicunknown
ss2749350749GNOMAD|coding_rs72547516fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/17/1705/17/17151Genomicunknown
ss2936802188GNOMAD|rs72547516fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/23/1705/23/17151Genomicunknown
ss2985046814AFFY|Axiom_PsorMich_Affx-52171772fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/24/1705/24/17151Genomicunknown
ss2985680248AFFY|Axiom_Smokesc1_Affx-52171772fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/24/1705/24/17151Genomicunknown
ss3013550606SWEGEN|NC_000015.9:g.75044578A>Gfwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt05/30/1705/30/17151Genomicunknown
ss3232004270TOPMED|TOPMed_freeze_5?chr15:74,752,237-01fwd/A/Gacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt10/01/1710/01/17151Genomicunknown
ss3232004271TOPMED|TOPMed_freeze_5?chr15:74,752,237-02fwd/A/Tacactcctccttcttgcccttcacctcccccacaggtgaggcctgccggt10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs72547516|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 AAGATGTGGG AGGTTAGTGG GGTCGCAGAC TTGTGAATAG ACAGTCTTAC ATAAGAGTGA
 CATGGGGTAT AAGAGGGGAT AATTCATGGG GCAGTTAGGG CAGCCCCTGA GCTCTGCTTG
 TCCTCTGTGT TCTACAGACA CTGTGATTGG CAGGGAGCGG CGGCCCCGGC TCTCTGACAG
 ACCCCAGCTG CCCTACTTGG AGGCCTTCAT CCTGGAGACC TTCCGACACT CCTCCTTCTT
 GCCCTTCACC
 D
 TCCCCCACAG GTGAGGCCTG CCGGTTCTGC CCTCCCACCT CTAAAGTGCT TGCCATGTTT
 TCTCTTCCTG GCTTCTCAGC CCTGGCCCTG GCTCAGCATC TCCTTCCCGA CCTCGTTCCC
 CACAGATCCC GGCCTCAGTC TGCCCCCATC CAGTCCAAAC ATAATCTAAC CCCCAGCTCT
 CAGGAGAAAG TTCCACTTGT GATCTCAGCG CTCATTCCCC TCTGTTCATA TTCCCTCCCT
 CCCAGTGCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000015
dbSNP Blast Analysis
3D structure mapping
NP_000752  

  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/G
G/G
HWPA
G
T
ss1354127476EAS 1008AF 1.00000000
EUR 1006AF 0.999000010.00100000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.998999950.00100000
ss1691925945ExAc_Aggregated_Populations121406AF 0.998780970.00121905
ss1691925946ExAc_Aggregated_Populations121264AF 0.99995053 0.00004948
ss342408580ESP_Cohort_Populations 4550GF0.999120890.00087912 1.000000000.999560420.00043956
ss491704189CSAgilent 1323GF0.996999980.00300000 1.000000000.998499990.00150000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0360000

  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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