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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3826007          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/130
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_001114735.1:c.245G>A
NM_004049.2:c.245G>A
NM_004049.3:c.245G>A
NP_001108207.1:p.Gly82Asp
NP_004040.1:p.Gly82Asp
NT_010194.16:g.51053537C>T
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 ss48417999 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3826007 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
ss5012488YUSUKE|IMS-JST187263byFreqfwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat08/12/0210/10/03107Genomicunknown
ss24064930PERLEGEN|afd3566967byFreqrev/BC/Tatggttacaattcttccccagttaatgatgcgtcttcaaactccttttccatcacttggt08/10/0409/13/04123Genomicunknown
ss48417999APPLERA_GI|hCV25992796byFreqfwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat09/28/0511/03/06126Genomicunknown
ss65728078ILLUMINA|Human1-rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat10/10/0610/10/06127Genomicunknown
ss66617218ILLUMINA|HumanHap300v1.1_rs3826007fwd/BA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat11/09/0611/09/06127Genomicunknown
ss67307170ILLUMINA|HumanHap550v1.1_rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat11/14/0611/14/06127Genomicunknown
ss67712433ILLUMINA|HumanHap650Yv1.0_rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat11/14/0611/14/06127Genomicunknown
ss69182210PERLEGEN|PGP03566967byFreqrev/BC/Tatggttacaattcttccccagttaatgatgcgtcttcaaactccttttccatcacttggt01/30/0703/31/08127Genomicunknown
ss70785815ILLUMINA|HumanHap550v3.0__rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat04/20/0703/30/08130Genomicunknown
ss71362615ILLUMINA|HumanHap650Yv3.0_rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat04/23/0704/23/07127Genomicunknown
ss75427892ILLUMINA|ILMN_Human_1M_rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat08/28/0708/29/07129Genomicunknown
ss79170105ILLUMINA|HumanHap300v2.0_rs3826007fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat04/18/0711/18/07130Genomicunknown
ss80735503KRIBB_YJKIM|KHS1009044fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat11/26/0711/26/07130Genomicunknown
ss84200608KRIBB_YJKIM|KHS656545fwd/TA/Gaccaagtgatggaaaaggagtttgaagacgcatcattaactggggaagaattgtaaccat12/04/0712/06/07130Genomicunknown
ss86348149CANCER-GENOME|1553rev/BC/Tatggttacaattcttccccagttaatgatgcgtcttcaaactccttttccatcacttggt01/25/0801/25/08129Genomicunknown
ss90225502BCMHGSC_JDW|JWB-0883469rev/BC/Tatggttacaattcttccccagttaatgatgcgtcttcaaactccttttccatcacttggt02/26/0802/29/08129Genomicunknown
ss106443784BGI|BGI_rs3826007rev/BC/Tatggttacaattcttccccagttaatgatgcgtcttcaaactccttttccatcacttggt09/15/0806/18/09130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3826007|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCCTCAACAG CTTCAAGGTG AGCCAGCTCA AGACTTTGCT CTCCACCAGG CAGAAGATGA
 CAGACTGTGA ATTTGGATAT ATTTACAGGC TGGCTCAGGA CTATCTGCAG TGCGTCCTAC
 AGATACCACA ACCTGGATCA GGTCCAAGCA AAACGTCCAG AGTGCTACAA AATGTTGCGT
 TCTCAGTCCA AAAAGAAGTG GAAAAGAATC TGAAGTCATG CTTGGACAAT GTTAATGTTG
 TGTCCGTAGA CACTGCCAGA ACACTATTCA ACCAAGTGAT GGAAAAGGAG TTTGAAGACG
 R
 CATCATTAAC TGGGGAAGAA TTGTAACCAT ATTTGCATTT GAAGGTATTC TCATCAAGAA
 ACTTCTACGA CAGCAAATTG CCCCGGATGT GGATACCTAT AAGGAGATTT CATATTTTGT
 TGCGGAGTTC ATAATGAATA ACACAGGAGA ATGGATAAGG CAAAACGGAG GCTGGGTATG
 TGTGATGGAA AAATTCTTCA TTGTTCTTTC CTGTGAAATA GAAATTGAGA ATTTCCTTGC
 TAGTTAAAAC AACAACAAAA CACTTTACCT AAGAATACTA TTTTCCTTGG GTGGTTTGTT

  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
NT_010360.1
dbSNP Blast Analysis
UniGene Cluster ID
227817

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss24064930 AFD_EUR_PANEL European 48 IG 0.292 0.708 0.439 0.146 0.854
AFD_AFR_PANEL African American 46 IG 0.087 0.913 1.000 0.043 0.957
AFD_CHN_PANEL Asian 48 IG 0.125 0.250 0.625 0.150 0.250 0.750
CHMJ Asian 74 IG 0.257 0.743
ss48417999 HapMap-CEU European 120 IG 0.033 0.433 0.533 0.251 0.250 0.750
HapMap-HCB Asian 90 IG 0.067 0.244 0.689 0.200 0.189 0.811
HapMap-JPT Asian 88 IG 0.432 0.568 0.100 0.216 0.784
HapMap-YRI Sub-Saharan African 120 IG 0.067 0.933 1.000 0.033 0.967
AGI_ASP population multiple 74 IG 0.243 0.757 0.403 0.122 0.878
ss5012488 JBIC-allele 1426 AF 0.217 0.783
ss69182210 HapMap-CEU European 120 GF 0.033 0.433 0.533 0.250 0.750
HapMap-HCB Asian 90 GF 0.067 0.244 0.689 0.189 0.811
HapMap-JPT Asian 90 GF 0.422 0.578 0.211 0.789
HapMap-YRI Sub-Saharan African 120 GF 0.067 0.933 0.033 0.967
ss80735503 KHP1 180 AF 0.222 0.778

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.271+/-0.249 1392 1091 276 0

  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 .