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Reference SNP (refSNP) Cluster Report: rs34397615                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/144
Map to Genome Build:107/Weight
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMed
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:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000021.8:g.45709642C>T
  • NC_000021.9:g.44289759C>T
  • NG_009556.1:g.8880C>T
  • NM_000383.2:c.755C>T
  • NM_000383.3:c.755C>T
  • NP_000374.1:p.Pro252Leu
  • XM_005261110.1:c.-742C>T
  • XM_011529551.1:c.755C>T
  • XP_011527853.1:p.Pro252Leu
Links , Linkout
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 ss48403874 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34397615 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
ss48403874APPLERA_GI|hCV25622778fwd/TA/Gtgggctcccttggctcgaaccagaggcttcggccactgctgctgcgggccttgttcttcc09/28/0511/30/05126Genomicunknown
ss2285948631000GENOMES|pilot_1_YRI_10404546_chr21_44534070rev/C/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca04/22/1004/22/10132Genomicunknown
ss342534057NHLBI-ESP|ESP2500-chr21-45709642byFreqrev/BC/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca03/25/1109/05/14134Genomicunknown
ss472343318CORRELAGEN|AIRE_755C_T_041511rev/BC/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca11/18/1111/22/11136Genomicunknown
ss4911861591000GENOMES|20110521_exome_693957_chr21_45709642rev/BC/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca02/10/1202/22/12137Genomicunknown
ss491566666EXOME_CHIP|nonsyn_282892_chr_21_45709642rev/BC/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca03/05/1203/06/12137Genomicunknown
ss533633258ILLUMINA|HumanOmni5-4v1_B__kgp13125816-0_B_F_1897087042rev/BC/Tggaagaacaaggcccgcagcagcagtggccgaagcctctggttcgagccaagggagccca06/22/1206/23/12138Genomicunknown
ss1694179479EVA_EXAC|EVA_EXAC_9656184rev/C/Taacaaggcccgcagcagcagtggccgaagcctctggttcgagccaaggga03/04/1503/04/15144Genomicunknown
ss1711556497EVA_XIMO|EVA_XIMO_672257rev/BC/Taacaaggcccgcagcagcagtggccgaagcctctggttcgagccaaggga03/09/1503/09/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34397615|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=144
 CTGGGGGTCA CTGGGGAGGG CCAGAGGGGC GGGAACGCTG CCCTGCTGGC CCAGCCTAGC
 CTCACCTCCA CCCTGCAAGG AAGAGGGGCG TCAGCAATGG GGGCAGCCTC AGCAGCGAGG
 GTGCACATGG CTGTGGCACC AGGCGTCTCT CGGCAGCAGC CCCCAGCCCC CAGCAGAGCC
 ACTCCCCCAG AGGCAACGCT GTTCCTGGGG CGGGGGGCAT CAAGAGCCAG GCTCCCCAGG
 GAAGGTCAGG TGCTTACGGG GGCAGCGCCC TGGGCTCCCT TGGCTCGAAC CAGAGGCTTC
 R
 GGCCACTGCT GCTGCGGGCC TTGTTCTTCC CACTGCCGGA GTCTTCGAAC TTGCTGGGAG
 TGTAGAACTC CCCGCCAACC TGGATGCACT TCTTGGAGCC GCCTGGGAGG AGATGCCGGC
 TGGTCCTGGC TCACCCGCCC AGCAGGACCT GCCTTGGCAG TCGTGTAGGC CCCAGGGTGG
 GGTCTAGCAG AGACAGGTGG AGTTCCCACA GCCTGCATTC CTCCAGCCCG CCCCCACCCC
 AGTCGAGTCT GGGGCCCGGG GATTGTCCTG GATCTACACC AGGGTGTTCA ACAGCGTCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000021
dbSNP Blast Analysis

  Population Diversity (in rs orientation) Note: rs34397615 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
ss1694179479ALL121188AF 0.003 0.997
ss228594863pilot_1_YRI_low_coverage_panel 118AF 0.059 0.941
ss342534057ESP_Cohort_Populations 4126GF 0.019 0.981 0.752 0.010 0.990
ss48403874AGI_ASP populationmultiple 78IG 0.026 0.974 1.000 0.013 0.987
ENSEMBL_Venter 2IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.019+/-0.096404000

  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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