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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs751777          
refSNP ID: rs751777
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_001100623.1:c.-8-4147T>C
NM_017958.2:c.-8-4147T>C
NT_022135.15:g.20582282T>C
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 ss11523094 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs751777 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
ss104300TSC-CSHL|TSC0137843fwd/TA/Ggtaaaaccttaaggatcctgagatttcctgtatcttggagtattatgtactaattgtgtg09/06/0010/10/0386Genomic95 %
ss6109320SC_JCM|NT_029911.4_212215rev/BC/Tcacacaattagtacataatactccaagatacaggaaatctcaggatccttaaggttttac01/10/0310/10/03111Genomicunknown
ss11523094WI_SSAHASNP|chr2.NT_005058.13_483369byFreqrev/BC/Tcacacaattagtacataatactccaagatacaggaaatctcaggatccttaaggttttac07/03/0310/25/06116Genomicunknown
ss23218834PERLEGEN|afd1322839byFreqrev/BC/Tcacacaattagtacataatactccaagatacaggaaatctcaggatccttaaggttttac08/10/0409/13/04123Genomicunknown
ss44354093ABI|hCV1020597fwd/TA/Ggtaaaaccttaaggatcctgagatttcctgtatcttggagtattatgtactaattgtgtg07/18/0507/18/05126Genomicunknown
ss75183432ILLUMINA|ILMN_Human_1M_rs751777fwd/TA/Ggtaaaaccttaaggatcctgagatttcctgtatcttggagtattatgtactaattgtgtg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs751777|allelePos=719|totalLen=1280|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GACACAGTGA ATATAAAAAC GTGGAGTAAC AGGAGTCTCC TGAACTTCTG TGGTCAATTT
 CTTTACATTT CTAATGGGTT TGTTTGTTTC TTTGTTTGTG CCAtcgccca ggctggagtg
 caatgatctc cgctcgctgc agcctccacc tcccaggttc aagcaattct cctgcctcag
 cctcccaagt agctagaatt acgggcgtgt gccatcacac ccagctaatt ttttgtattt
 taagtagaga caggatttcg ccacgttggc caggcaatcc acccgcctca gcttctcaaa
 gtgctgggat tacaggtgtg agccaccatg cccagccTTC TAATGGTTCT TGATATTAAT
 TTGGCTACAT TTGCTATCtt tttttttgga cggagtttag ctgtcactca gactggagtg
 caatggcact atctaggctc actgcaacct ccgcctctga ggttcaagca attctcatgc
 ctcagcctcc caagcagctg cgattacagg tgtcaccaca cccagctaat ttttatattt
 ttagtggaga caggctttca ccatgttggc caggatggtc tcaaactcct gacctcaagt
 gatctgcctg ctttggcatc ccaaagtgct gggattacag gcatgagcca ctgtgcctgg
 ccGATAAAGA GTTAAAAGAG ACTTTTAGGT AAAACCTTAA GGATCCTGAG ATTTCCTG
 R
 TATCTTGGAG TATTATGTAC TAATTGTGTG GGTGAACATC TGATTTGCCA GAtgatatgg
 tttggctctg tgtccccacc caaaatctca tgtggaattg taatccccag tgttggcaga
 ggggcctggt gggaggtgac tggatcacgg tggcaactat ccctgttgct ggtcttgtga
 tagagttctc aggagatcta cttgtttata agtgtgttca ctctttccta ctgccacatg
 aagacatgcc tgcttcccct ttgccttctg ccatgattgt aagctttctg aggcctccac
 agccatgcct cctgtacagt ctgcagaact cttgagtcga ctaaacctct tttcttcata
 aattacccgg tctcaggtag ttctttaaag gagtatgaga acagactaat acaACGAATG
 TTGTGCCTAT GTTTTCTCTG GTGTTTCCTT GAGGTTAGCC TGGGTTTCTC TTACTTTTCA
 GGCAGTTGAG TCTCAAGGGA TGGCAACAAG GAGAAACTGA ACAGCAGACT TGGGAAACAA
 CTCGGGCCAC TTGAGTAAGA T

  GeneView back to top
GeneView via analysis of contig annotation: PLEKHB2 pleckstrin homology domain containing, family B (evectins) member 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_022135->NM_001100623
function
referenceNT_022135->NM_017958
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022135->NM_001100623->NP_00109409320582282forwardintron
referenceNT_022135->NM_017958->NP_06042820582282forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs751777 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_001838858.2100077123941906plusAalt_assembly_8HuRefHuRefview718
2NW_921551.192020124703322plusAalt_assembly_1CeleraCeleraview718
2NT_022135.1520582282131590830minusTref_assemblyreferencereferenceview718

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029911.4
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
ss11523094HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.700 0.283 0.017 0.655 0.842 0.158
ss23218834AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.696 0.304 0.403 0.848 0.152
AFD_CHN_PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.089+/-0.19133226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .