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Reference SNP (refSNP) Cluster Report: rs35685286                 ** other **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/146
Map to Genome Build:107/Weight
Validation Status:byCluster
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:other
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000011.10:g.5226933C>T
  • NC_000011.9:g.5248163C>T
  • NG_000007.3:g.70683G>A
  • NM_000518.4:c.89G>A
  • NP_000509.1:p.Gly30Asp
Links , Linkout
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 ss263198899 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35685286 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
ss49850636MILLER_NIDDK|GL00133fwd/TA/Gacgtggatgaagttggtggtgaggccctggcaggttggtatcaaggttacaagacaggtt12/09/0509/19/07126Genomicunknown
ss79088949HBVAR|HbVar.288fwd/TA/Gacgtggatgaagttggtggtgaggccctggcaggttggtatcaaggttacaagacaggtt11/01/0710/02/12137Genomicunknown
ss160628357ILLUMINA|HumanOmni1-Quad_v1-0_B_rs35685286-128_B_R_1562307636rev/BC/Taacctgtcttgtaaccttgataccaacctgccagggcctcaccaccaacttcatccacgt08/04/0910/04/09131Genomicunknown
ss244317497OMICIA|2010_April_001_093_HBB_141900_0161rev/BC/Taacctgtcttgtaaccttgataccaacctgccagggcctcaccaccaacttcatccacgt06/16/1008/29/12137Genomicunknown
ss263198899OMIM-CURATED-RECORDS|2882fwd/TA/Gacgtggatgaagttggtggtgaggccctggcaggttggtatcaaggttacaagacaggtt11/08/1011/08/10133Genomicunknown
ss481728160ILLUMINA|HumanOmni1-Quad_v1-0_C_rs35685286-131_B_R_1863105366rev/BC/Tgtcttgtaaccttgataccaacctgccagggcctcaccaccaacttcatc01/30/1208/28/15146Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35685286|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=146
 TAGACCTCAC CCTGTGGAGC CACACCCTAG GGTTGGCCAA TCTACTCCCA GGAGCAGGGA
 GGGCAGGAGC CAGGGCTGGG CATAAAAGTC AGGGCAGAGC CATCTATTGC TTACATTTGC
 TTCTGACACA ACTGTGTTCA CTAGCAACCT CAAACAGACA CCATGGTGCA TCTGACTCCT
 GAGGAGAAGT CTGCCGTTAC TGCCCTGTGG GGCAAGGTGA ACGTGGATGA AGTTGGTGGT
 GAGGCCCTGG
 R
 CAGGTTGGTA TCAAGGTTAC AAGACAGGTT TAAGGAGACC AATAGAAACT GGGCATGTGG
 AGACAGAGAA GACTCTTGGG TTTCTGATAG GCACTGACTC TCTCTGCCTA TTGGTCTATT
 TTCCCACCCT TAGGCTGCTG GTGGTCTACC CTTGGACCCA GAGGTTCTTT GAGTCCTTTG
 GGGATCTGTC CACTCCTGAT GCTGTTATGG GCAACCCTAA GGTGAAGGCT CATGGCAAGA
 AAGTGCTCGG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000509  
OMIM
141900.0161

  Population Diversity (Alleles in RefSNP orientation) Note: rs35685286 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
HWPG
ss79088949ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
2200

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

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