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Submitted SNP(ss) Details: ss252841585           **clinically associated**
Submitter
HandleOMIM-CURATED-RECORDS
Submitter SNP ID16465
RefSNP(rs#)rs328
Submitted Batch ID609708_batch
Submitted DateAug 10, 2010
Publication CitedN.D.
First entry to dbSNPAug 10 2010 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodCLINICAL_SNP_SUBMISSION
Ascertainment SamplesizeN.D.
PopulationN.D.
Allele
Observed AlleleC/G
Ancestral AlleleN.D.
Allele OriginG:Germline C:Germline
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusNot Validated
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype SummaryN.D.
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
NP_000228.1:p.SER447TER

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss252841585|allelePos=251|len=501|taxid=9606|alleles='C/G'|mol=Genomic
 TGGCCTGAGT GTGACAGTTA ATTATTGGGA ATATCAAAAC AATTACCCAG CATGATCATG
 TATTATTTAA ACAGTCCTGA CAGAACTGTA CCTTTGTGAA CAGTGCTTTT GATTGTTCTA
 CATGGCATAT TCACATCCAT TTTCTTCCAC AGGGTGATCT TCTGTTCTAG GGAGAAAGTG
 TCTCATTTGC AGAAAGGAAA GGCACCTGCG GTATTTGTGA AATGCCATGA CAAGTCTCTG
 AATAAGAAGT
 S
 AGGCTGGTGA GCATTCTGGG CTAAAGCTGA CTGGGCATCC TGAGCTTGCA CCCTAAGGGA
 GGCAGCTTCA TGCATTCCTC TTCACCCCAT CACCAGCAGC TTGCCCTGAC TCATGTGATC
 AAAGCATTCA ATCAGTCTTT CTTAGTCCTT CTGCATATGT ATCAAATGGG TCTGTTGCTT
 TATGCAATAC TTCCTCTTTT TTTCTTTCTC CTCTTGTTTC TCCCAGCCCG GACCTTCAAC
 CCAGGCACAC

  Submitted Frequency for ss252841585 back to top
There is no frequency submission for ss252841585.


  dbSNP summary of Genotypes for ss252841585 back to top
No sufficient data to compute Hardy-weinberg probability for ss252841585.


  Submitted individual genotype for ss252841585 back to top
There is no individual genotype data for ss252841585.

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