Submitter Handle CLINVAR Submitter SNP ID SCV000171229 RefSNP(rs#) rs1044322 Submitted Batch ID CLINVAR_2015-01-14 Submitted Date Jan 16, 2015 Publication Cited N.D. First entry to dbSNP Jan 16 2015 12:00:00:000AM Resource Links Submitted Gene Name PTEN Submitted Gene ID N.D. Submitted SNP Synonyms N.D Submitted linkout N.D Submitted HGVS NG_007466.2:g.5129G>A Assay Species Homo sapiens Molecular Type genomic Method CLINICAL_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele G/A Ancestral Allele N.D. Allele Origin T:Germline C:Germline SNP Class SNV CpG Code N.D. Validation Validation Status Not Validated HWE Goodness of Fit not applicable Variation Frequency Submission N.D. Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss1537038146|allelePos=51|len=101|taxid=9606|alleles='G/A'|mol=Genomic CCCGGCGCGG CGGCGGAGGG GGCGGGCAGG CCGGCGGGCG GTGATGTGGC R GGACTCTTTA TGCGCTGCGG CAGGATACGC GCTCGGCGCT GGGACGCGAC   Submitted Frequency for ss1537038146 There is no frequency submission for ss1537038146.   dbSNP summary of Genotypes for ss1537038146 No sufficient data to compute Hardy-weinberg probability for ss1537038146.   Submitted individual genotype for ss1537038146 There is no individual genotype data for ss1537038146.

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