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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs698592          
refSNP ID: rs698592
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_005795.4:c.1170+2408C>T
NT_005403.16:g.38423656G>A
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss2804789 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs698592 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
ss1182647KWOK|OVLP-000804-597893fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta09/02/0010/10/0386Genomic99 %
ss1257435KWOK|OVLP-000804-590588fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta09/02/0010/10/0386Genomic97 %
ss1688299KWOK|OVLP-000925-312796fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta10/05/0010/10/0387Genomic99 %
ss1730114KWOK|OVLP-000925-299773fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta10/05/0010/10/0387Genomic97 %
ss2446525SC_JCM|AC074020.1_190369fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta11/03/0010/10/0389Genomicunknown
ss2804789TSC-CSHL|TSC0972819byFreqfwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta01/02/0104/07/0492Genomicunknown
ss4957152YUSUKE|IMS-JST126126byFreqrev/BC/Ttactgtgatccctccctttttgtctcaatgctcttactttttcccactctcataacatga08/07/0210/10/03108Genomicunknown
ss91479893BCMHGSC_JDW|JWB-1357832fwd/TA/Gtcatgttatgagagtgggaaaaagtaagagcattgagacaaaaagggagggatcacagta02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs698592|allelePos=99|totalLen=597|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AGCCTGAGCA AATGATTTTA AGAAGTACAT GACATAGTTG GAACAAAATG AATTTGGCAG
 TTGTTTCTTC ATGTTATGAG AGTGGGAAAA AGTAAGAG
 R
 CATTGAGACA AAAAGGGAGG GATCACAGTA TTTCTTAAGA AGAGAAATGA ATCATACTGA
 AACAGGGATT GTATCTCCAG AGATGAAGAA AAGGAACAGA TATTAGAAAT GTTGTGAGGA
 ACTGAAAGAT TTGGCAACAA CCTAGCTCAA ACATTGTGTA TTATTGTAAT TTTCCAATGT
 CAAAATTTTC TCAATTTTAG GACATGGCAG AAGATCAAGG TTCTGTGTCC CTTTTGTTTA
 CACAGATCGA GTGTAACAGG AGTGTTAGGC ATTACTTTAG ATATTCCCTG GGCACTCTTT
 CTAAATAAAA GAGCCAATTT GGGATTTTGA TCCAAAATGA TTAATGTTCC TGTTGGCACA
 TGTGTTTTTG AAAATAAGTG ATTTGACAAA TCAAATAATA AGTATACTGA GAATCTCATG
 AAGTGGGGCA TGGTGCTAAA AACTTTATCT TTCTTAGCTT GTATTTATTT TTCTGAGACC
 TGTGTAGAGA ACTTGCTT

  GeneView back to top
GeneView via analysis of contig annotation: CALCRL calcitonin receptor-like
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_005403->NM_005795
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005403->NM_005795->NP_00578638423656reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs698592 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
2NW_001838863.113630367180074061plusGalt_assembly_8HuRefHuRefview98
2NW_921585.156000413181810610plusGalt_assembly_1CeleraCeleraview98
2NT_005403.1638423656187922484plusGref_assemblyreferencereferenceview98

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005374.1 AC046198 AC074020.1
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss2804789HapMap-CEUEuropean 120IG 0.167 0.417 0.417 0.403 0.375 0.625
HapMap-HCBAsian 90IG 0.222 0.778 0.403 0.111 0.889
HapMap-JPTAsian 88IG 0.182 0.818 0.527 0.091 0.909
HapMap-YRISub-Saharan African 120IG 0.150 0.483 0.367 1.000 0.392 0.608
ss4957152JBIC-allele 1492AF 0.060 0.940

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.388+/-0.20927021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .