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Reference SNP (refSNP) Cluster Report: rs74315509                 ** other **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/147
Map to Genome Build:107/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:other
MAF/MinorAlleleCount:T=0.000008/1 (ExAC)
T=0.00008/1 (GO-ESP)
HGVS Names
  • NC_000022.10:g.20230069C>T
  • NC_000022.11:g.20242546C>T
  • NG_012176.1:g.30748G>A
  • NM_023004.5:c.587G>A
  • NP_075380.1:p.Arg196His
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 ss254228739 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs74315509 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
ss179320354OMICIA|2009_August_001_084_RTN4R_605566_0002rev/BC/Tcggtcgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggttgccgt11/05/0908/28/12137Genomicunknown
ss254228739OMIM-CURATED-RECORDS|13289fwd/TA/Gacggcaaccgcatctccagcgtgcccgagccgccttccgtgggctgcacagcctcgaccg08/19/1008/19/10132Genomicunknown
ss342536884NHLBI-ESP|ESP2500-chr22-20230069rev/BC/Tcggtcgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggttgccgt03/25/1103/27/11134Genomicunknown
ss491568578EXOME_CHIP|nonsyn_284804_chr_22_20230069rev/BC/Tcggtcgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggttgccgt03/05/1203/06/12137Genomicunknown
ss780760273ILLUMINA|HumanOmni25Exome-8v1_A_exm1586746-0_B_F_1919053043rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt05/30/1307/10/15146Genomicunknown
ss783439165ILLUMINA|HumanOmniExpressExome-8v1_A_exm1586746-0_B_F_1919053043rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt05/31/1306/19/15146Genomicunknown
ss1694233613EVA_EXAC|EVA_EXAC_9714460rev/C/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt03/04/1503/04/15144Genomicunknown
ss1752414199ILLUMINA|OmniExpressExome-8v1-1_B_exm1586746-0_B_F_2058857754rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt05/27/1506/09/15146Genomicunknown
ss1917953527ILLUMINA|HumanExome-12v1-1_B_exm1586746-0_B_F_2058857754rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt10/16/1510/16/15147Genomicunknown
ss1946578147ILLUMINA|HumanCoreExome-12v1-0_C_exm1586746-0_B_F_2058857754rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt10/29/1510/29/15147Genomicunknown
ss1959966128ILLUMINA|exm1586746-0_B_F_1919053043rev/BC/Tgaggctgtgcagcccacggaaggcggctcgggcacgctggagatgcggtt11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs74315509|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=147
 AGCGATAATG CACAGCTCCG GTCTGTGGAC CCTGCCACAT TCCACGGCCT GGGCCGCCTA
 CACACGCTGC ACCTGGACCG CTGCGGCCTG CAGGAGCTGG GCCCGGGGCT GTTCCGCGGC
 CTGGCTGCCC TGCAGTACCT CTACCTGCAG GACAACGCGC TGCAGGCACT GCCTGATGAC
 ACCTTCCGCG ACCTGGGCAA CCTCACACAC CTCTTCCTGC ACGGCAACCG CATCTCCAGC
 GTGCCCGAGC
 R
 CGCCTTCCGT GGGCTGCACA GCCTCGACCG TCTCCTACTG CACCAGAACC GCGTGGCCCA
 TGTGCACCCG CATGCCTTCC GTGACCTTGG CCGCCTCATG ACACTCTATC TGTTTGCCAA
 CAATCTATCA GCGCTGCCCA CTGAGGCCCT GGCCCCCCTG CGTGCCCTGC AGTACCTGAG
 GCTCAACGAC AACCCCTGGG TGTGTGACTG CCGGGCACGC CCACTCTGGG CCTGGCTGCA
 GAAGTTCCGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000022
dbSNP Blast Analysis
3D structure mapping
NP_075380  
OMIM
605566.0002

  Population Diversity (Alleles in RefSNP orientation) Note: rs74315509 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1694233613ExAc_Aggregated_Populations121392AF 0.000008240.99999177
ss342536884ESP_Cohort_Populations 4536GF 0.000440920.999559101.000000000.000220460.99977952

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

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

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