Submitted SNP(ss) Details: ss71650991 **clinically associated**

Submitter
Handle	TSC2DB
Submitter SNP ID	NM_000548.2:c.138+1G>A
RefSNP(rs#)	rs45517091
Submitted Batch ID	2007_5_10A
Submitted Date	May 10, 2007
Publication Cited	8990012 9829910 10330349 10732801 11112665
First entry to dbSNP	May 10 2007 12:00:00:000AM

Resource Links
OMIM	191100
Submitted Gene Name	N.D
Submitted Gene ID	N.D.
Submitted SNP Synonyms	N.D
Source linkout	Source Link
Submitted HGVS	NM_000548.2:c.138+1G>A
Submission report	view

Assay
Species	Homo sapiens
Molecular Type	Genomic
Method	LSDB_SNP_SUBMISSION
Ascertainment Samplesize	N.D.
Population	N.D.

Allele
Observed Allele	G/A
Ancestral Allele	N.D.
SNP Class	single base
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.

Comment
line = 83PMID: 10732801

Fasta sequence (Legend)

 GAAGTTTAAG ATTCTGTTGG GACTGGGAAC ACCGAGGCCA AATCCCAGGT CTGCAGAGGG
 TAAACAGACG GAGTTTATCA TCACCGCGGA AATACTGAGA
 R
 TGAGTGAGCT ACCTGTGTCT TTGCTAGGCT AGAGGGAAAT GCAGAGAAGG CTGGGTTTGG
 TCTTGCACCA GGTTCTGTGG GAGACGGGTT GCTGGCAACT

Submitted Frequency for ss71650991

There is no frequency submission for ss71650991.

dbSNP summary of Genotypes for ss71650991

No sufficient data to compute Hardy-weinberg probability for ss71650991.

Submitted individual genotype for ss71650991

There is no individual genotype data for ss71650991.

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Revised: May 25, 2006 1:38 PM .