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Reference SNP (refSNP) Cluster Report: rs150364664                 ** With Uncertain significance 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/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:C=0.0003/39 (ExAC)
C=0.0002/1 (1000 Genomes)
C=0.0004/5 (GO-ESP)
C=0.0003/35 (TOPMED)
HGVS Names
  • CM000676.2:g.88433164T>C
  • NC_000014.8:g.88899508T>C
  • NC_000014.9:g.88433164T>C
  • NG_021183.1:g.52521T>C
  • NM_001040428.3:c.1016T>C
  • NM_018418.4:c.1112T>C
  • NP_001035518.1:p.Ile339Thr
  • NP_060888.2:p.Ile371Thr
  • XP_005267908.1:p.Ile372Thr
  • XP_005267909.1:p.Ile340Thr
  • XP_005267910.1:p.Ile321Thr
  • XP_005267911.1:p.Ile308Thr
  • XP_005267912.1:p.Ile308Thr
  • XP_005267913.1:p.Ile266Thr
  • XP_005267914.1:p.Ile372Thr
  • XP_006720267.1:p.Ile372Thr
  • XP_006720268.1:p.Ile372Thr
  • XP_011535253.1:p.Ile321Thr
  • XP_011535254.1:p.Ile315Thr
  • XP_011535255.1:p.Ile266Thr
  • XP_016876941.1:p.Ile320Thr
  • XP_016876942.1:p.Ile308Thr
  • XP_016876943.1:p.Ile307Thr
  • XP_016876944.1:p.Ile307Thr
  • XP_016876945.1:p.Ile307Thr
  • XP_016876946.1:p.Ile265Thr
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 ss342393419 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs150364664 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
ss342393419NHLBI-ESP|ESP2500-chr14-88899508byFreqfwd/BC/Tgtgaagaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttgaaact03/25/1109/05/14134Genomicunknown
ss4890371691000GENOMES|20110521_exome_192329_chr14_88899508fwd/BC/Tgtgaagaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttgaaact02/10/1202/13/12137Genomicunknown
ss491488196EXOME_CHIP|nonsyn_204422_chr_14_88899508fwd/BC/Tgtgaagaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttgaaact03/05/1203/05/12137Genomicunknown
ss780703820ILLUMINA|HumanOmni25Exome-8v1_A_exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/30/1307/10/15142Genomicunknown
ss783378210ILLUMINA|HumanOmniExpressExome-8v1_A_exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/31/1306/18/15142Genomicunknown
ss13520362661000GENOMES|PHASE3_V1_65308434fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg08/16/1408/16/14142Genomicunknown
ss1632291503EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_14_88899508_36156770fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg03/04/1503/04/15144Genomicunknown
ss1675285536EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_14_88899508_36156770fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg03/04/1503/04/15144Genomicunknown
ss1691585572EVA_EXAC|EVA_EXAC_6868649fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg03/04/1503/04/15144Genomicunknown
ss1711380024EVA_MGP|EVA_XIMO_495784fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg03/09/1503/09/15144Genomicunknown
ss1752146489ILLUMINA|OmniExpressExome-8v1-1_B_exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/27/1506/09/15146Genomicunknown
ss1917891406ILLUMINA|HumanExome-12v1-1_B_exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg10/16/1510/16/15147Genomicunknown
ss1946383461ILLUMINA|HumanCoreExome-12v1-0_C_exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg10/29/1510/29/15147Genomicunknown
ss1959574594ILLUMINA|exm1119525-0_B_F_1922689765fwd/BC/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg11/13/1511/13/15147Genomicunknown
ss2204124162HUMAN_LONGEVITY|HLI-14-88433164-T-Cfwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg11/18/1611/18/16150Genomicunknown
ss2368526728TOPMED|14_88899508_T/Cfwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg11/19/1611/19/16150Genomicunknown
ss2740876700GNOMAD|exomes_rs150364664fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/17/1705/17/17151Genomicunknown
ss2749185304GNOMAD|coding_rs150364664fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/17/1705/17/17151Genomicunknown
ss2930623781GNOMAD|rs150364664fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/23/1705/23/17151Genomicunknown
ss3012622754SWEGEN|NC_000014.8:g.88899508T>Cfwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg05/30/1705/30/17151Genomicunknown
ss3021592113ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1119525-0_B_F_1922689765fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg06/28/1706/28/17151Genomicunknown
ss3217909539TOPMED|TOPMed_freeze_5?chr14:88,433,164fwd/C/Tgaagaactgttgtatctgagtttcatgaagatgtaacagatgaaattttg10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs150364664|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AAATTTTACT CTATTAGGTC ATCACCTTTA GTAAATATTT ATCCTTGCAT AATTTGAGAA
 GGTAGACATG TTTGTTTTGT AATATTCCCC TTAGTAATAT GAGATAGAAG TACATTGGTA
 ATGGTAGAGA TAGATATTTC TAATTAGGTA CTAATGTTTC TTACAGTTTT CAGAATAAGT
 AAGGAATAAT TTTTATGCTA TATATTGCCT TCCTTTTACA GTGAAGAAGA ACTGTTGTAT
 CTGAGTTTCA
 Y
 TGAAGATGTA ACAGATGAAA TTTTGAAACT TGGTTTATTT TCAAACAGGT TAGTTTTTTT
 AATGGTGTTA TGTTAATTCA GGAGTACATT AAATATTCTT CATATTTCTT CATATGATGT
 TAAAATTTTA AAGTTATTTT CCCATATTAG GAAATGAAAA AATATATTGC TTTCTTGGAA
 ACTTATTATT ATAATTGATA GCAAGTTGTA AAGAATGTTT AATTCATACT CTAGGGGAAG
 TTCACCACTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000014
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.
SourceC/C
C/T
T/T
HWPC
T
ss1352036266EAS 1008AF 1.00000000
EUR 1006AF 0.001000000.99900001
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1691585572ExAc_Aggregated_Populations121326AF 0.000321450.99967855
ss342393419ESP_Cohort_Populations 4372GF 0.000914910.999085071.000000000.000457460.99954253

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0180000

  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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