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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3771561          
refSNP ID: rs3771561
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/129
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_014808.1:c.623+868G>A
NT_005416.12:g.1528308G>A
Links

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 ss91609701 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3771561 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
ss4957621YUSUKE|IMS-JST126649byFreqfwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca08/07/0210/10/03107Genomicunknown
ss23923668PERLEGEN|afd0726536byFreqfwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca08/10/0409/13/04123Genomicunknown
ss66241749AFFY|SNP_A-4271278byFreqfwd/TA/Gaaaaggattgaagaacgtatgggaaagggctc10/27/0603/31/08127Genomicunknown
ss66681572ILLUMINA|HumanHap300v1.1_rs3771561fwd/BA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca11/09/0611/09/06127Genomicunknown
ss67301472ILLUMINA|HumanHap550v1.1_rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca11/14/0611/14/06127Genomicunknown
ss67706284ILLUMINA|HumanHap650Yv1.0_rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca11/14/0611/14/06127Genomicunknown
ss70780113ILLUMINA|HumanHap550v3.0__rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca04/20/0703/30/08130Genomicunknown
ss71356463ILLUMINA|HumanHap650Yv3.0_rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca04/23/0704/23/07127Genomicunknown
ss75583428ILLUMINA|ILMN_Human_1M_rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca08/28/0708/29/07129Genomicunknown
ss76387463AFFY|AFFY_6_1M_SNP_A-4271278fwd/TA/Gaaaaggattgaagaacgtatgggaaagggctc08/28/0708/30/07129Genomicunknown
ss79166156ILLUMINA|HumanHap300v2.0_rs3771561fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca04/18/0711/18/07130Genomicunknown
ss84177417KRIBB_YJKIM|KHS651198fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca12/04/0712/06/07130Genomicunknown
ss91609701BCMHGSC_JDW|JWB-1407899fwd/TA/Gtgctagctaaggggaaaaggattgaagaacgtatgggaaagggctctgggctctggccca02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3771561|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCAGTGTCTC TGCAGTGTGG CAGAAAGAGT CCTCTACGGG GAAGACACTG TGCTGTGGTA
 GAGGAGGAGG GGACTGTGTG AGGCTAACAG TGTCTGCCTG TGTCAGGGCA TTGGGAATCG
 CCTGGCACCC ATGGCCTTCA TCTCATCTTG TTTTGATTTC TCTAAGACTT GACACTGGTG
 GGTTTTTCTG GATGGAAGTG ATAGAGACCT AGAGAAGGAG TGCTAGCTAA GGGGAAAAGG
 ATTGAAGAAC
 R
 GTATGGGAAA GGGCTCTGGG CTCTGGCCCA GGTGGCTGGG AGCTTTAGTC ACCAAAGGGG
 AGCACTCAGC TGGTGAAAGT GAGTCAGGAG GACTTAGCCT TGCCTTTGTG ACACATCCTG
 TTGAGATGCA GGTTTGTTTG TCAGATCATG TATGTTCATG TGTGTCGTTA AGGCTCTACC
 GGGACCTGCT GGCAGCTGCC CTTTCACACC TTCAAAGTAT GAGTGCCAGC TATGCATCCA
 CCACTGCTGT

  GeneView back to top
GeneView via analysis of contig annotation: FARP2 FERM, RhoGEF and pleckstrin domain protein 2
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_005416->NM_014808
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005416->NM_014808->NP_0556231528308forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3771561 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_001838874.1596755234109494plusGalt_assembly_8HuRefHuRefview100
2NW_921618.146937577236023047plusGalt_assembly_1CeleraCeleraview100
2NT_005416.121528308242002377plusGref_assemblyreferencereferenceview100

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005422.1
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
ss23923668AFD_EUR_PANELEuropean 48IG 0.042 0.292 0.667 1.000 0.188 0.812
AFD_AFR_PANELAfrican American 46IG 0.304 0.696 0.403 0.152 0.848
AFD_CHN_PANELAsian 48IG 0.208 0.500 0.292 1.000 0.458 0.542
HapMap-CEUEuropean 120IG 0.050 0.267 0.683 0.403 0.183 0.817
HapMap-HCBAsian 90IG 0.244 0.489 0.267 1.000 0.489 0.511
HapMap-JPTAsian 88IG 0.182 0.500 0.318 1.000 0.432 0.568
HapMap-YRISub-Saharan African 118IG 0.051 0.271 0.678 0.439 0.186 0.814
ss4957621JBIC-allele 1468AF 0.393 0.607
ss66241749HapMap-CEUEuropean 118GF 0.051 0.254 0.695 0.178 0.822
HapMap-HCBAsian 90GF 0.244 0.489 0.267 0.489 0.511
HapMap-JPTAsian 90GF 0.178 0.511 0.311 0.433 0.567
HapMap-YRISub-Saharan African 120GF 0.050 0.283 0.667 0.192 0.808

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.419+/-0.1853322602690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .