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Reference SNP (refSNP) Cluster Report: rs183617006                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:135/149
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0777/389 (1000 Genomes)
HGVS Names
  • NC_000006.11:g.32630327G>A
  • NC_000006.12:g.32662550G>A
  • NM_001243961.1:c.380-302C>T
  • NM_002123.4:c.380-302C>T
  • NT_167245.2:g.3903362G>A
  • NT_167247.2:g.3958907G>A
  • NT_167249.2:g.4059765G>A
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 ss458764818 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs183617006 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
ss4587648181000GENOMES|20101123_snps_4932048_chr6_32630327fwd/A/Gttgaaaaaaaagtagaatgttatttcaaaatttgtaatatttgaaaaaaaagtaggcagg07/20/1107/20/11135Genomicunknown
ss13195946431000GENOMES|PHASE3_V1_31528699fwd/A/Gaaaaaagtagaatgttatttcaaaatttgtaatatttgaaaaaaaagtag08/16/1408/16/14144Genomicunknown
ss1926041014WEILL_CORNELL_DGM|SNV:chr6:32630327fwd/TA/Gaaaaaagtagaatgttatttcaaaatttgtaatatttgaaaaaaaagtag10/16/1510/17/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs183617006|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=147
 ATACCTGGAG TCGAAGTCTT GGATTAAGGT TCATTCAACA AATATAAATT TGACAATCAC
 TGAGAATTCA AAGATAAATA ACATACTATG GTCCCTGCAT TTATAGAATG TGCAATCTAG
 TAACAGACAG CAAAAAACAA AAAGAATGTT ATTTCAAAAG TTTGTAATAT TTGAAAAAAA
 AGTAGAATGT TATTTCAAAA
 R
 TTTGTAATAT TTGAAAAAAA AGTAGGCAGG CCTTCAAAAC AAATAACCCT TGATCAAACA
 TCATGTTTGT CCACAACTCA ATTCCTTTAT CTTCTCAGAT TGCTGCTCAT AGTAAAAAAA
 ATGACACATC TTTCCCCGCC TCTTTTACAC ATCTCATCCT TTCCTTTTAG GCCACTTTAT
 CACATTTCCT TTATTCTCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000006
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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