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Reference SNP (refSNP) Cluster Report: rs138310419                 ** With Likely benign 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
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.0130/1563 (ExAC)
A=0.0050/25 (1000 Genomes)
A=0.0077/100 (GO-ESP)
A=0.0081/1015 (TOPMED)
HGVS Names
  • CM000671.2:g.128525294G>A
  • NC_000009.11:g.131287573G>A
  • NC_000009.12:g.128525294G>A
  • NG_012073.1:g.25603G>A
  • NM_001003722.1:c.1000G>A
  • NM_001499.2:c.1000G>A
  • NP_001003722.1:p.Glu334Lys
  • NP_001490.1:p.Glu334Lys
  • XP_005251982.1:p.Glu334Lys
  • XP_005251983.1:p.Glu80Lys
  • XP_006717122.1:p.Glu337Lys
  • XP_006717123.1:p.Glu337Lys
  • XP_011516851.1:p.Glu337Lys
  • XP_011516852.1:p.Glu337Lys
  • XP_011516853.1:p.Glu334Lys
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 ss342285140 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs138310419 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
ss3358303981000GENOMES|20100804_snps_7473939_chr9_131287573fwd/A/Gaacttggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaagaagagg03/22/1103/22/11134Genomicunknown
ss342285140NHLBI-ESP|ESP2500-chr9-131287573byFreqfwd/TA/Gaacttggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaagaagagg03/25/1109/05/14134Genomicunknown
ss4909866211000GENOMES|20110521_exome_494419_chr9_131287573fwd/TA/Gaacttggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaagaagagg02/10/1202/21/12137Genomicunknown
ss491428664EXOME_CHIP|nonsyn_144890_chr_9_131287573fwd/TA/Gaacttggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaagaagagg03/05/1203/05/12137Genomicunknown
ss491943875CLINSEQ_SNP|SNV-chr9-130327394byFreqfwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/06/1209/05/14137Genomicunknown
ss535699125ILLUMINA|HumanOmni5-4v1_B_kgp5166963-0_B_R_1801304680fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga06/22/1208/29/15146Genomicunknown
ss678363565WARNICH_LAB|exom_9_131287573fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga01/18/1301/18/13138Genomicunknown
ss749608804ROSENBERGLAB|CHR9_130327394fwd/TA/Gaacttggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaagaagagg04/26/1304/26/13142Genomicunknown
ss780881412ILLUMINA|HumanOmni25Exome-8v1_A_exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/30/1307/10/15146Genomicunknown
ss783567133ILLUMINA|HumanOmniExpressExome-8v1_A_exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/31/1306/19/15146Genomicunknown
ss987015362EVA-GONL|EVA-GONL_rs138310419fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga04/23/1404/25/14142Genomicunknown
ss1067507753JMKIDD_LAB|HGDP_exomes_chr9_131287573fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga07/09/1407/09/14142Genomicunknown
ss1076634033JMKIDD_LAB|HGDP_WGS_chr9_131287573fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga07/10/1407/11/14142Genomicunknown
ss13355930751000GENOMES|PHASE3_V1_48170016fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga08/16/1408/16/14142Genomicunknown
ss1583271086EVA_GENOME_DK|EVA_GENOME_DK_snv_rs138310419fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga02/19/1502/20/15144Genomicunknown
ss1584064903EVA_FINRISK|EVA_FINRISK_rs138310419fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga02/27/1502/27/15144Genomicunknown
ss1596659885EVA_DECODE|EVA_DECODE_9_130327394_836518_rs138310419fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/02/1503/03/15144Genomicunknown
ss1623639535EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_131287573_26632670fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/04/1503/04/15144Genomicunknown
ss1666633568EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_131287573_26632670fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/04/1503/04/15144Genomicunknown
ss1689679686EVA_EXAC|EVA_EXAC_4813237fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/04/1503/04/15144Genomicunknown
ss1711238496EVA_MGP|EVA_XIMO_354256fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga03/09/1503/09/15144Genomicunknown
ss1752761584ILLUMINA|OmniExpressExome-8v1-1_B_exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/27/1506/09/15146Genomicunknown
ss1917841393ILLUMINA|HumanExome-12v1-1_B_exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga10/16/1510/16/15147Genomicunknown
ss1946269977ILLUMINA|HumanCoreExome-12v1-0_C_exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga10/29/1510/29/15147Genomicunknown
ss1959219064ILLUMINA|exm785603-0_B_R_1922420636fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga11/13/1511/13/15147Genomicunknown
ss1971315286GENOMED|rs138310419fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga02/16/1602/16/16147Genomicunknown
ss2025886900JJLAB|SNP6389455fwd/TA/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga08/29/1608/30/16149Genomicunknown
ss2154119166USC_VALOUEV|NC_000009.11:g.131287573G>Afwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga11/17/1611/17/16150Genomicunknown
ss2314727089HUMAN_LONGEVITY|HLI-9-128525294-G-Afwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga11/18/1611/18/16150Genomicunknown
ss2485251152TOPMED|9_131287573_G/Afwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga11/20/1611/20/16150Genomicunknown
ss2737905046GNOMAD|exomes_rs138310419fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/17/1705/17/17151Genomicunknown
ss2748277994GNOMAD|coding_rs138310419fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/17/1705/17/17151Genomicunknown
ss2883606390GNOMAD|rs138310419fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/19/1705/19/17151Genomicunknown
ss3005646038SWEGEN|NC_000009.11:g.131287573G>Afwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga05/30/1705/30/17151Genomicunknown
ss3022968222ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm785603-0_B_R_1922420636fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga06/28/1706/28/17151Genomicunknown
ss3601487579TOPMED|TOPMed_freeze_5?chr9:128,525,294fwd/A/Gggggcaggagatcaccagagcctgcaagacaagaggaggcaggatgaaga10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs138310419|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TTAAGAGAAC AGGGAAAGAA GTATCAATTC GTTGAATGTG GATACTCCAT TGGTGCAACA
 ATTCCAATTG CAGGAAATTT ATTGACTTGT ATGAGGTATG ATTTACCTAG GGAATGACCA
 CTAAGCACCA TCTCCGTCAC TCTGACAGAG CAGCTATCCC ACAGCAGAGA GTCAAGCTGA
 GGCTGAGCGA GCTCTGCGGG AAATGCGGGA CCTCCTGATG AACTTGGGGC AGGAGATCAC
 CAGAGCCTGC
 R
 AAGACAAGAG GAGGCAGGAT GAAGAAGAGG CCCAGGTAAA GCTGCAAGAG GCACAGATGC
 AGCAGGGACC AGAGGCCCAC AAAGAGCCCC CAGCTCCCAG CCAGGGCCCA GGAGGGAAAC
 AGAATGAAGG TGGGTTTCAG TATGGATGTG GTCCTTTAAC TCGTAAGTTT CAAATGTGAA
 GAGAAACAAG AGCATGTTTT GAATGTTGTG TTAAACTGTA GGACAGTTAA CCAGAATTTT
 ATGTAATGTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000009
dbSNP Blast Analysis

  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
ss1335593075EAS 1008AF 1.00000000
EUR 1006AF 0.011900000.98810005
AFR 1322AF 0.001500000.99849999
AMR 694AF 0.014400000.98559999
SAS 978AF 0.001000000.99899995
ss1689679686ExAc_Aggregated_Populations121412AF 0.012881760.98711824
ss342285140ESP_Cohort_Populations 4530GF 0.013686530.986313460.751830000.006843270.99315673
ss491943875CSAgilent 1077GF 0.019000000.980999951.000000000.009500000.99049997

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.026+/-0.1100000

  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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