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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3827555          
refSNP ID: rs3827555
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:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NT_029928.12:g.428814G>C
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 ss44417721 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3827555 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
ss5014045YUSUKE|IMS-JST188970fwd/BC/Gcccgcccgctgcgcgcgcatccccgcccccgggcgatctgtcagagcacctcgcgagcgt08/12/0210/10/03107Genomicunknown
ss14167197BCM_SSAHASNP|chr3.NT_029928.11_428814rev/TC/Gacgctcgcgaggtgctctgacagatcgcccgggggcggggatgcgcgcgcagcgggcggg11/05/0311/22/03119Genomicunknown
ss28460971KYUGEN|QH05793fwd/C/Gcccgcccgctgcgcgcgcatccccgcccccgggcgatctgtcagagcacctcgcgagcgt07/07/0405/13/05123Genomicunknown
ss44417721ABI|hCV26292714rev/C/Gacgctcgcgaggtgctctgacagatcgcccgggggcggggatgcgcgcgcagcgggcggg07/18/0507/18/05126Genomicunknown
ss52974511RSG_UW|TFRC-001854byFreqfwd/C/Gcccgcccgctgcgcgcgcatccccgcccccgggcgatctgtcagagcacctcgcgagcgt06/06/0612/16/06127Genomicunknown
ss78249417HGSV|Cor12878_SNV_20070510.chr3_197297390rev/C/Gacgctcgcgaggtgctctgacagatcgcccgggggcggggatgcgcgcgcagcgggcggg10/17/0710/18/07129Genomicunknown
ss83022934HGSV|Cor19240_SNV_20070510.chr3_197297390rev/C/Gacgctcgcgaggtgctctgacagatcgcccgggggcggggatgcgcgcgcagcgggcggg11/30/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3827555|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 AGTTACCTAA CATTCCATCC TGCACGTACA TTTCAAGGCA CTGCCGCAGT GCAATATCCA
 ACATTTAAGC GTCAACGCCA ACAGATTGGA CCTAGCACTG CAGGGACTGG AGGTTGGTCA
 AGGTCAGGCG GAGGCTGCCA GGCTACCAGG GTGGAGGAAG GCGCCGAGGC AGAGGCCAGT
 GCGCCCATCG CGCGGCTCCT CGGGGCACCT GCTGCCTTGG CGCCTTTTCC CTTGGCCTTC
 GCCTCGCCCG CAGCGCCCTC CGCATAGGGC CCCGCCCGCT GCGCGCGCAT CCCCGCCCCC
 S
 GGGCGATCTG TCAGAGCACC TCGCGAGCGT ACGTGCCTCA GGAAGTGACG CACAGCCCCC
 CTGGGGGCCG GGGGCGGGGC CAGGCTATAA ACCGCCGGTT AGGGGCCGCC ATCCCCTCAG
 AGCGTCGGGA TATCGGGTGG CGGCTCGGGA CGGAGGACGC GCTAGTGTGA GTGCGGGCTT
 CTAGAACTAC ACCGACCCTC GTGTCCTCCC TTCATCCTGC GGGGCTGGCT GGAGCGGCCG
 CTCCGGTGCT GTCCAGCAGC CATAGGGAGC CGCACGGGGA GCGGGAAAGC GGTCGCGGCC

  GeneView back to top
GeneView via analysis of contig annotation: TFRC transferrin receptor (p90, CD71)
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_029928->NM_003234
function
HuRefNW_001838889->NM_003234
function
CeleraNW_921873->NM_003234
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_029928->NM_003234->NP_003225428814reverse5' near gene
HuRefNW_001838889->NM_003234->NP_003225141174reverse5' near gene
CeleraNW_921873->NM_003234->NP_00322575005reverse5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3827555 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
3NW_001838889.1141174193109423minusCalt_assembly_8HuRefHuRefview300
3NW_921873.175005194393525minusGalt_assembly_1CeleraCeleraview300
3NT_029928.12428814197293477minusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029928.11
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss52974511MCL_HISP-PANEL 84IG 0.429 0.357 0.214 0.150 0.607 0.393
MCL_AD-PANEL 42IG 0.381 0.476 0.143 1.000 0.619 0.381
MCL_ASIAN-PANEL 94IG 0.702 0.298 0.251 0.851 0.149
MCL_CEPH-PANEL 94IG 0.149 0.596 0.255 0.200 0.447 0.553
MCL_YORUB-PANEL 46IG 0.391 0.478 0.130 1.000 0.630 0.370

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.464+/-0.12919019000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNYESYES

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Revised: May 25, 2006 1:38 PM .