NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs458354                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:80/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hit
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.4538/56977 (TOPMED)
HGVS Names
  • CM000683.2:g.13022897A>G
  • NC_000021.8:g.14395218A>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 ss10993719 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs458354 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
ss618058SC_JCM|AL163202.2_57089fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag07/12/0010/10/0380Genomicunknown
ss3995639PERLEGEN|P00199489fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag09/26/0110/10/03121Genomicunknown
ss10993719BCM_SSAHASNP|chr21.NT_011512.8_57089fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag06/30/0310/10/03117Genomicunknown
ss12518489WI_SSAHASNP|chr21.NT_011512.8_57089fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag07/04/0310/10/03117Genomicunknown
ss14742956SC_SNP|NT_011512.9_57089fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag11/12/0311/22/03119Genomicunknown
ss91766857BCMHGSC_JDW|JWB-1467927fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag02/26/0803/02/08142Genomicunknown
ss135656604ENSEMBL|ENSSNP1941361fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag12/08/0810/14/09142Genomicunknown
ss142811629ENSEMBL|ENSSNP9167642rev/BC/Tctaccatttaaaatgtattgtatcctttcatcttcctttcctaagattccacatagatat12/08/0810/16/09142Genomicunknown
ss156666847GMI|GMI_SNP_199218412fwd/TA/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag06/24/0906/25/09142Genomicunknown
ss283460449GMI|GMI_AK_SNP_7780870fwd/A/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag12/16/1012/16/10137Genomicunknown
ss287493175GMI|GMI_NA10851_SNP_3505966fwd/A/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag12/17/1012/17/10138Genomicunknown
ss292673890PJP|SNP_2180248_chr21_13317089fwd/A/Gatatctatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaatggtag01/21/1101/21/11134Genomicunknown
ss1429120851DDI|DDI_rs458354fwd/TA/Gtatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaat11/04/1411/04/14144Genomicunknown
ss1938466656WEILL_CORNELL_DGM|SNV:chr21:14395218fwd/TA/Gtatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaat10/16/1510/19/15147Genomicunknown
ss2704318486GRF|rs458354fwd/A/Gtatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaat02/13/1702/13/17151Genomicunknown
ss3018580344SWEGEN|NC_000021.8:g.14395218A>Gfwd/A/Gtatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaat05/30/1705/30/17151Genomicunknown
ss3352626123CSHL|rs458354fwd/A/Gtatgtggaatcttaggaaaggaagatgaaaggatacaatacattttaaat10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs458354|allelePos=201|totalLen=2100|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CAAGTTTAAG GTTTTGGCAA GTGTTTGAGA AAAATATGAA TTAAGCTCAT TTTCTGTGGA
 GACAAGTCTC TAGGCGTTTA GTTTTGGTTA AGTTAAATAC TTAAATCTAT TTAAAATTTT
 AAAGACCTTA GTAATGTAAA CAAATGGTGT TGAGTTTGGA CTTCTCTACA ATATCTATGT
 GGAATCTTAG GAAAGGAAGA
 R
 TGAAAGGATA CAATACATTT TAAATGGTAG TTCAGCCTAA ATCCTAAGCA TAAGCATAAT
 ACACTGCTGC Attttttttt gacagagcct aactctgtcc cccagactga agtgcagtgg
 tgccatcttg actcactgca accccagtct cctagattca agctattctc ctgcctcagc
 ctcccaagta tctgggatca caggcagaca ccagtcacac ccagctTGTt ttttgttttt
 tatgtttttt ctttttttgg agacacagtc ttgctctgtc acccaggctg gaatacaatg
 gcacaacctc ggctcactgc aacctccact tcccaggttc aagcgattct cctgcctcag
 cttcctgagt agttgggatt acaggcatgt gctgccatgc ccggctatct gcctcccagg
 ttcaagcgat tcttctgcct cagcctcttg agtagctggg attacaggca tgtgccacca
 tgcctggcta atttttgtat ttttagtaga gacagggttt caccatgttg gtcaggccgg
 tctcaaactc ctgacctcct gatccaccag cctcagcctc ccaaagtgct agaataatag
 gcgtgagcca ccatgcccag cccatttttt gtatttttaa tagaggtgag gtttcaccat
 gttgaccagg ctgatctcga actcctgacc tcaagtgatc tgcccccctc cacctgccaa
 aatgctggga ttacagacaa gagccactat gcctagccAA TATGTTACTT TAAAAAAATA
 AGTTATTCAT TTTAGTTTTC TTCTGTTGCT AACGATCATT TCTATTTtgt agggaaaagg
 aagagggatc agactgttac tgtgtctatg tagaaaggga agagataata aattccattt
 ttacctgtac cttgaacaat tgctttgtcc tgagattctg ttaatctgta actttgcccc
 aatcactgtg ccccaacctc tttgccccaa ccttgagctc acaaaaacat gtgttgtatg
 gaatcaaggt ttaagggatc tagggctgtg ccttgttaac aaaatgttta caagtagtat
 gcttggtaaa agtcatcgcc attctctagt ctcgataaac caagggcacg ctgcactgcg
 gaaaatggca gggacctctg ccctggaaag ccgggtattg tccaaggttt ctccccatgt
 aatagtctga aatatgcctc atgggatgag aaagacctga tcatccccca gcccaacacc
 cataaatggt ctgtgctgag gtggattagt aaaaggggaa agcccttgca gttgagatag
 aggaaggcca ctgtctcctg cctgctcctg ggaatggact gtctcggtat aaaacccgat
 tttacatttg ttcaattctg agataggaga aaaaccaccc tatggtggga ggcaagacat
 gttggcagca atgctgcttt attgttcttt actccactga gatgtttggg cagagagaaa
 cataaatctg gcctacgtgc acattcaggc atagtacctc cccttgaact taattatgac
 acagattctt ctgctcacat gtttttttgc tgaccttctc cctattatca ccctgctctc
 ctaccacatt cctcttgctg agataatgaa aataataatc aagaaaaact gagggaactc
 agaggccggt gctggtgcag gtgcttggta tgctgagcgc tggtcccctg gactcacttt
 tctttctcta tactttgact ctgtgtctta tttcttttct cagtctctca tcccacctga
 ctagaagtac ccacaggtgt ggaggggctg gccacccctt caTATTTTCA CTTAATTTAC
 TCTGAATCTA TGCCACTTTT GCATTTGAGG CTAATGTTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512 AC036170 AC055846
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/G
HWPA
G
ss135656604ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000
ss142811629ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-00000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hit
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN