Submitter Handle SYSTEMSBIOZJU Submitter SNP ID SYSTEMSBIOZJU_SNV4431928 RefSNP(rs#) rs112928434 Submitted Batch ID Whole_Genome_Sequencing Submitted Date Jan 06, 2017 Publication Cited [1] Whole genome sequencing of matched tumor, adjacent non-tumor tissue and corresponding normal blood samples of hepatocellular carcinoma patients revealed a TP53 (R249S) mutation associated with poor prognosis First entry to dbSNP Jan 6 2017 12:00:00:000AM Resource Links Submitted Gene Name N.D Submitted Gene ID N.D. Submitted SNP Synonyms N.D Submitted linkout N.D Assay Species Homo sapiens Molecular Type Genomic Method RESEQ Ascertainment Samplesize 2 Population hepatocellular carcinoma patients Allele Observed Allele -/AA Ancestral Allele N.D. Allele Origin N/A SNP Class DIV CpG Code N.D. Validation Validation Status Not Validated HWE Goodness of Fit not applicable Homozygote Detected PCR Confirmed In Expressed Sequence Variation Frequency Submission N.D. Genotype Summary N.D. Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2627715972|allelePos=26|len=51|taxid=9606|alleles='-/AA'|mol=Genomic CCCTGTCTCA AAAACAAAAC AAAAT N AAAAAAAAAA AAACAGCAGG CTGTG   Submitted Frequency for ss2627715972 There is no frequency submission for ss2627715972.   dbSNP summary of Genotypes for ss2627715972 No sufficient data to compute Hardy-weinberg probability for ss2627715972.   Submitted individual genotype for ss2627715972 There is no individual genotype data for ss2627715972.

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