Submitter Handle CHWRETT Submitter SNP ID CDKL5: c.533G>C RefSNP(rs#) rs267606715 Submitted Batch ID CHWRETT_2012_1_30 Submitted Date Aug 08, 2012 Publication Cited N.D. First entry to dbSNP Aug 8 2012 12:00:00:000AM Resource Links Submitted Gene Name CDKL5 Submitted Gene ID N.D. Submitted SNP Synonyms N.D Source linkout Source Link Submitted HGVS NM_003159.2:c.533G>C Assay Species Homo sapiens Molecular Type genomic Method LSDB_SNP_SUBMISSION Ascertainment Samplesize N.D. Population N.D. Allele Observed Allele G/C Ancestral Allele N.D. Allele Origin G:Germline A:Both C:Both 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|ss538296525|allelePos=51|len=101|taxid=9606|alleles='G/C'|mol=Genomic AGAAGGCAAT AATGCTAATT ACACAGAGTA CGTTGCCACC AGATGGTATC S GTCCCCAGAA CTCTTACTTG GGTGAGTTAC CGTCCCAAAA TAGAATGACA   Submitted Frequency for ss538296525 There is no frequency submission for ss538296525.   dbSNP summary of Genotypes for ss538296525 No sufficient data to compute Hardy-weinberg probability for ss538296525.   Submitted individual genotype for ss538296525 There is no individual genotype data for ss538296525.

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