NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs199601330                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0046/574 (TOPMED)
HGVS Names
  • CM000663.2:g.101686A>G
  • NC_000001.10:g.101686A>G
  • NC_000001.11:g.101686A>G
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss275679994 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs199601330 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss275679994GMI|GMI_AK_SNP_154fwd/A/Gcagagcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctatagcac12/16/1012/16/10137Genomicunknown
ss283987249GMI|GMI_NA10851_SNP_15fwd/A/Gcagagcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctatagcac12/17/1012/17/10138Genomicunknown
ss647514968SSMP|1_101686fwd/TA/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat12/14/1202/09/15138Genomicunknown
ss1425684615DDI|DDI_rs199601330fwd/TA/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat11/04/1411/04/14144Genomicunknown
ss2697373206GRF|rs199601330fwd/A/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat02/13/1702/13/17151Genomicunknown
ss2750608259GNOMAD|rs199601330fwd/A/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat05/17/1705/17/17151Genomicunknown
ss2986142807SWEGEN|NC_000001.10:g.101686A>Gfwd/A/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat05/30/1705/30/17151Genomicunknown
ss3343271668CSHL|rs199601330fwd/A/Gcaagatcctatctcaaaaaaaaaaaaaaatcacatgtgggaaatagctat10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs199601330|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AAATTAGCTG GGCCTGGTGG CTCATGCCTG TAATCCCAGC TACTTAGGAG GCTGAGGCAG
 GAGAATTCCT TGAACCCAGA AGGTGGAGGT TGCAGTGAGC TGAGATTGCA CCACTGCACT
 CCAGCCTAGG TGACACAGCA AGACTCTGTC AAAAAAAAAA AAAGAAATCC AAATAAAATT
 TCCAGAATAT GTGGAAAATA GTGACAATAA AAATATTACA CATGTGTAAT CCCAGCATTT
 TGAGATGCCA AGGTGGCAGG ATCACTTGAG ACCAGGAGTT CGCAACCAGC CTGGACAACA
 TAGGGAGACT CCATCTCCAC ACACGCCAAA AAAAATTTTA AATAGCCAGG TATAGTGGTA
 CTTCCTGTAA TCCCATCTAC TTGGGAGGCT AAGGTGGGAG AATCACCCAA CCTCAGGAGT
 TCAGGGCTTC AGCAAGCCAT GATCATATCA CTGCACTCCA GCCTCAGCAA CAGAGCAAGA
 TCCTATCTCA AAAAAAAAAA
 R
 AAAATCACAT GTGGGAAATA GCTATAGCAC AATAAAAATA AATGTATTAA GTATGAACAA
 CAAAAAAGCT AGTAAAGGTT GAACAACAAC TATCCTTAGG AAAGTGGAAA TAATGTATTA
 ATAAATATGA AAGCAGGCTA GCCACGGTGA CTCACATCTG TAATCCCAGC ACTTTGGGAG
 GCTGAGGCAG GCAGATCACC TGAGGTCAGG AGTTCCAGAC CAGCCTGGCC AACATGGTGA
 AATCTTGTCT CTCCTACAAA TACAAAAACT AGCCAGGCTT GGTTGTGCAC TCCTGTAATT
 CGAGCTACTT GGGAGGCTGA GGCAGGAGAA TCTCTTGAAC CTGAGAGGCA GAGGTTGCAG
 TGAGCCAAGA TCATGCCACT GCACTCCAGC TGGGGCAACA GAGTGACACT CCATCTCAAA
 ATAAATAAAT AAGAAAGCAG AAACTAATAA ACTAGAAAAC AGAAACATAG AACTAATTTA
 TAAATCAAAG CACTATGCCT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN