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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3761097          
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_021232.1:c.1574G>A
NP_067055.1:p.Arg525Gln
NT_011109.15:g.8559195C>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 ss48412076 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3761097 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
ss4947131YUSUKE|IMS-JST114653byFreqfwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc08/01/0210/10/03107Genomicunknown
ss48412076APPLERA_GI|hCV25744317byFreqfwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc09/28/0511/03/06126Genomicunknown
ss65727813ILLUMINA|Human1-rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc10/10/0610/10/06127Genomicunknown
ss66585254ILLUMINA|HumanHap300v1.1_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc11/09/0611/09/06127Genomicunknown
ss67300486ILLUMINA|HumanHap550v1.1_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc11/14/0611/14/06127Genomicunknown
ss67705216ILLUMINA|HumanHap650Yv1.0_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc11/14/0611/14/06127Genomicunknown
ss69227876PERLEGEN|PGP04307745rev/BC/Tggtatccttcggcatcctggcagcagccgcgccacagttcttggctgagcagctcctgtt01/30/0701/30/07127Genomicunknown
ss70779118ILLUMINA|HumanHap550v3.0__rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc04/20/0703/30/08130Genomicunknown
ss71355387ILLUMINA|HumanHap650Yv3.0_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc04/23/0704/23/07127Genomicunknown
ss74932332ILLUMINA|ILMN_Human_1M_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc08/28/0708/29/07129Genomicunknown
ss79165458ILLUMINA|HumanHap300v2.0_rs3761097fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc04/18/0711/18/07130Genomicunknown
ss84173320KRIBB_YJKIM|KHS650264fwd/TA/Gaacaggagctgctcagccaagaactgtggcgcggctgctgccaggatgccgaaggatacc12/04/0712/06/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3761097|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TCTGGAGGCT GAGGCATGAG AATCGCTTGA ACCTGGAGGC AGAGCTTGCA GTGAGCTGAG
 ATTGCACCAC TGCACTCCAG CCTGGGCAAC AGAGCGAGAC TCTGTCTCAG AAAAACACCA
 AAAACGAAAA AACAAAACCC ACTCTCCCTG CAGGGCAGGC CGGCTATGTA GTGTATAAGT
 CCATTCCCTA TGGCTCCTTG GAGGAGGTAA TCCCCTACCT GATCCGGAGG GCCCAGGAGA
 ACCGGAGCGT GCTTCAGGGT GCCCGCAGGG AACAGGAGCT GCTCAGCCAA GAACTGTGGC
 R
 GCGGCTGCTG CCAGGATGCC GAAGGATACC CCACTAGCAC CCCTGAGGGG GTCATGTGGT
 CAATAAAAGT CCTTAGGTGC TGCCTAAGCT GCTGTCCTGC ACTGACGCCG CCTCCTTGGG
 GAAGGGCTCA TCTTGACCTC AGCCAGCCCA AGCTAGGGGT TTTGCAGTTC AAGAGAGATC
 GTTAGGCTGG GAGTGGTAGC TCTCGCCTAT ACTCCCAGCG CTTTGGGAGG CCGAGGTGGG
 AGGCGTGCTT CAGTCTAGGA GTTCAAGACC AGCCTGGGCA ACATAGCAAT ATTCTTTCTC

  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_011296.1
dbSNP Blast Analysis
UniGene Cluster ID
515366

  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
ss48412076 HapMap-CEU European 120 IG 0.017 0.067 0.917 0.025 0.050 0.950
HapMap-HCB Asian 90 IG 0.022 0.356 0.622 0.150 0.200 0.800
HapMap-JPT Asian 88 IG 0.045 0.273 0.682 1.000 0.182 0.818
HapMap-YRI Sub-Saharan African 120 IG 0.017 0.983 1.000 0.008 0.992
AGI_ASP population multiple 76 IG 0.053 0.947 1.000 0.026 0.974
ss4947131 JBIC-allele 1492 AF 0.155 0.845
ss69227876 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 1.000 1.000
Concordant Genotype Total Sample A/A A/G G/G
ss48412076 1121 2 112 987
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs3761097 1162 2 112 987
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
188 ss48412076 N/N CSHL-HAPMAP HapMap-CEU NA10851 CEPH1344.01 r27_ch19_CEU_illumina:human_1m_beadchip
200 ss48412076 A/G CSHL-HAPMAP HapMap-CEU NA12057 CEPH1344.13 r27_ch19_CEU_illumina:human_1m_beadchip
335 ss48412076 A/G CSHL-HAPMAP HapMap-CEU NA12707 CEPH1358.01 r27_ch19_CEU_illumina:human_1m_beadchip
345 ss48412076 N/N CSHL-HAPMAP HapMap-CEU NA12717 CEPH1358.12 r27_ch19_CEU_illumina:human_1m_beadchip
373 ss48412076 A/G CSHL-HAPMAP HapMap-CEU NA12264 CEPH1375.11 r27_ch19_CEU_illumina:human_1m_beadchip
410 ss48412076 A/G CSHL-HAPMAP HapMap-CEU NA12155 CEPH1408.12 r27_ch19_CEU_illumina:human_1m_beadchip
565 ss48412076 A/G CSHL-HAPMAP HapMap-CEU NA12801 CEPH1454.01 r27_ch19_CEU_illumina:human_1m_beadchip
577 ss48412076 A/A CSHL-HAPMAP HapMap-CEU NA12813 CEPH1454.13 r27_ch19_CEU_illumina:human_1m_beadchip
5136 ss48412076 A/G CSHL-HAPMAP HapMap-YRI NA19132 YOR101.01 r27_ch19_YRI_illumina:human_1m_beadchip
5137 ss48412076 A/G CSHL-HAPMAP HapMap-YRI NA19131 YOR101.02 r27_ch19_YRI_illumina:human_1m_beadchip
5152 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18532 CH18532 r27_ch19_CHB_illumina:human_1m_beadchip
5153 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18561 CH18561 r27_ch19_CHB_illumina:human_1m_beadchip
5154 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18562 CH18562 r27_ch19_CHB_illumina:human_1m_beadchip
5156 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18603 CH18603 r27_ch19_CHB_illumina:human_1m_beadchip
5164 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18550 CH18550 r27_ch19_CHB_illumina:human_1m_beadchip
5167 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18611 CH18611 r27_ch19_CHB_illumina:human_1m_beadchip
5171 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18563 CH18563 r27_ch19_CHB_illumina:human_1m_beadchip
5173 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18612 CH18612 r27_ch19_CHB_illumina:human_1m_beadchip
5174 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18571 CH18571 r27_ch19_CHB_illumina:human_1m_beadchip
5175 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18620 CH18620 r27_ch19_CHB_illumina:human_1m_beadchip
5176 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18621 CH18621 r27_ch19_CHB_illumina:human_1m_beadchip
5177 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18594 CH18594 r27_ch19_CHB_illumina:human_1m_beadchip
5186 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18582 CH18582 r27_ch19_CHB_illumina:human_1m_beadchip
5188 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18635 CH18635 r27_ch19_CHB_illumina:human_1m_beadchip
5189 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18592 CH18592 r27_ch19_CHB_illumina:human_1m_beadchip
5191 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18593 CH18593 r27_ch19_CHB_illumina:human_1m_beadchip
5192 ss48412076 A/G CSHL-HAPMAP HapMap-HCB NA18637 CH18637 r27_ch19_CHB_illumina:human_1m_beadchip
5195 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18951 JA18951 r27_ch19_JPT_illumina:human_1m_beadchip
5204 ss48412076 N/N CSHL-HAPMAP HapMap-JPT NA18964 JA18964 r27_ch19_JPT_illumina:human_1m_beadchip
5207 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18959 JA18959 r27_ch19_JPT_illumina:human_1m_beadchip
5212 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18965 JA18965 r27_ch19_JPT_illumina:human_1m_beadchip
5213 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18973 JA18973 r27_ch19_JPT_illumina:human_1m_beadchip
5216 ss48412076 A/A CSHL-HAPMAP HapMap-JPT NA18967 JA18967 r27_ch19_JPT_illumina:human_1m_beadchip
5217 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18976 JA18976 r27_ch19_JPT_illumina:human_1m_beadchip
5221 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18995 JA18995 r27_ch19_JPT_illumina:human_1m_beadchip
5222 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18981 JA18981 r27_ch19_JPT_illumina:human_1m_beadchip
5223 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18971 JA18971 r27_ch19_JPT_illumina:human_1m_beadchip
5227 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18991 JA18991 r27_ch19_JPT_illumina:human_1m_beadchip
5228 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18994 JA18994 r27_ch19_JPT_illumina:human_1m_beadchip
5229 ss48412076 N/N CSHL-HAPMAP HapMap-JPT NA18992 JA18992 r27_ch19_JPT_illumina:human_1m_beadchip
5234 ss48412076 A/G CSHL-HAPMAP HapMap-JPT NA18999 JA18999 r27_ch19_JPT_illumina:human_1m_beadchip
Genotype data submitted for1162 samples from1162 individualsIndividual with multiple genotypes submission: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 .