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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17024795          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_005390.4:c.1126C>G
NP_005381.1:p.Arg376Gly
NT_016354.18:g.21310147C>G
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 ss117104914 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17024795 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
ss23309392PERLEGEN|afd3442620byFreqfwd/TC/Gatctacagcagtgattcatcttttgaagttgtggtgcaaatccatggatcaagtttaagt08/10/0409/13/04123Genomicunknown
ss68905788PERLEGEN|PGP03442620byFreqfwd/C/Gatctacagcagtgattcatcttttgaagttgtggtgcaaatccatggatcaagtttaagt01/30/0703/31/08127Genomicunknown
ss74820735AFFY|SNP_M-323743fwd/TC/Gatctacagcagtgattcatcttttgaagttgtggtgcaaatccatggatcaagtttaagt08/09/0708/09/07128Genomicunknown
ss117104914ILLUMINA-UK|NA18507_000134632_NCBI36.1_chr4_96981450fwd/C/Gatctacagcagtgattcatcttttgaagttgtggtgcaaatccatggatcaagtttaagt01/18/0901/18/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17024795|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 GAGTGATCCT GGAGTCAGTT ATCGTACACG AGAAGAAATT CAGGAAGTAA GAAGTAAGAG
 GGATCCTATA ATAATTCTCC AAGATAGAAT GGTAAACAGC AAGCTCGCCA CTGTGGAAGA
 ATTAAAGGAA ATTGGGGCTG AGGTGAGGAA AGAAATTGAT GATGCTGCCC AGTTTGCTAC
 CACTGATCCT GAGCCACATT TGGAAGAATT AGGCCATCAC ATCTACAGCA GTGATTCATC
 TTTTGAAGTT
 S
 GTGGTGCAAA TCCATGGATC AAGTTTAAGT CCGTCAGTTA AAGGGAGGCT ACGTGTGAAT
 TTATCATCAG TCTCTCAATG GAATGTTCAT GGTCAAATTT AAGAAACTGT GTTCTCAACT
 CAAGGAGGAA TAAAACTCAT AAAACAAAAG CCTTGTAAGC ATTTATTAAA AGAGATTATT
 AAAAGAGATT GAAAGACATG CATTCAATAA AAGTGATATT ATATTCAATT ATACTGTATA
 TTTTTGCATT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

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

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

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


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NC_000004.9
dbSNP Blast Analysis
UniGene Cluster ID
131361

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 G/G
 HWP C
 G
ss23309392 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.870 0.130 0.752 0.935 0.065
AFD_CHN_PANEL Asian 48 IG 1.000 1.000
HapMap-CEU European 108 IG 1.000 1.000
HapMap-HCB Asian 90 IG 0.978 0.022 1.000 0.989 0.011
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.900 0.083 0.017 0.100 0.942 0.058
ss68905788 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.900 0.083 0.017 0.942 0.058
Concordant Genotype Total Sample C/C C/G G/G
ss117104914 524 252 8 1
ss23309392 71 68 3
ss68905788 269 260 8 1
RefSNP Genotype Summary Total Individual C/C C/G G/G
rs17024795 581 319 11 1
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5157 ss68905788 C/C CSHL-HAPMAP HapMap-HCB NA18540 CH18540 chr4-HapMap-HCB
5157 ss117104914 C/G CSHL-HAPMAP HapMap-HCB NA18540 CH18540 r27_ch4_CHB_perlegen:genotyping_1.0.0
Genotype data submitted for596 samples from581 individualsIndividual with multiple genotypes submission:276

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .