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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28362459          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NG_007482.1:g.11694T>G
NM_000149.3:c.59T>G
NM_001097639.1:c.59T>G
NM_001097640.1:c.59T>G
NM_001097641.1:c.59T>G
NP_000140.1:p.Leu20Arg
NP_001091108.1:p.Leu20Arg
NP_001091109.1:p.Leu20Arg
NP_001091110.1:p.Leu20Arg
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 ss77047583 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28362459 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
ss35033226PGA-UW-FHCRC|FUT3-008504byFreqfwd/BG/Taatggccatggcgccgctgtctggccgcacgctatttcagctgctggtggctgtgtgttt02/08/0511/02/06125Genomicunknown
ss77047583DBMHC|FUT3_2611_59_0fwd/BG/Taatggccatggcgccgctgtctggccgcacgctatttcagctgctggtggctgtgtgttt10/01/0710/04/07129Genomicunknown
ss85708720HGSV|Cor19129_SNV_20070510.chr19_5795792rev/TA/Caaacacacagccaccagcagctgaaatagcgtgcggccagacagcggcgccatggccatt12/06/0712/10/07130Genomicunknown
ss103420072BGI|BGI_rs28362459rev/TA/Caaacacacagccaccagcagctgaaatagcgtgcggccagacagcggcgccatggccatt06/06/0806/17/09130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28362459|allelePos=1001|totalLen=2001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 TCAGCTTACT GCAACCTCTG CCTCCCAGGT TCAAGTGATT CTCATGCCTC AGCCTCCCGA
 GCAGCTGGGA TTACAGGCAT GAGCCACCAC ACTCGGCTTA TTTTTGTATT TTTGGTAGAA
 ACAGGGTTTC ACCATGTTGG CCAGGCTGGT CTCAAACTCC TGACCTCAAG TGATCCACCT
 GCCTCAGCCT CCCAAAGTGC TGGGATTACA GGCATGAGCC ACCAAACCCG GCTATTATTT
 ATTTATTTAT TTTTGAGACA CAATCTCCCT CTGTCACCCA GGCTGGAATG CAGTGGTGTC
 ATCTTGGCTC ACTGCAACCT CCGCCTCCTG GGTTCAAGTG ATTCTCGTGC CTCAGCCTCC
 CAAGTAGCTG GGACTACAGG TGTGCACCAC CACACCCAGC TAATTTTTGT ATTTTTAGTA
 GAAATGGGGT TTCATCATGT TGGCCAGGCT GGTCTTAAAT TCCTGACCTC AGGTGATCTG
 CTCACCTCGG CCTCCCAAAG TGCTGGGACT ACAGGTGTGA GCCACTCTGC TCGGCCGGTC
 AGCTCATATA TTACCTGCAA AACCCAGTCC CATTGTACCT TTCTCTGGCT GAGTCATGGA
 TTCAAGCCTT GCCTCAGTGA CATGGGAAGC AATGATGACC GGCTATGCCT TCTCCCCTGC
 CTCCAGGGCA CTTGTATTTC AGTAGACTGG GGAAGACTTC GGGGATTCCA GGAAAGGTCT
 TGTCTAATAG GTAGAAGGAA GTGGACTCTG GGACAAGGTC CCTTTGTTCA AACACCAGCT
 GTGCTGATTT TTGCTGTGAG TCACTTGGTC TCAGTTTTCT CATCTGTGAA ACAGGAATAA
 TAGCAGCTCC TCTCAGGACT CATGGCCCGG AGCTTTGGTA AGCAGGAGAT TGTCATCAAT
 GACCCTCACT CCTCTCTCCT CTCTTCCCAG ATACTCTGAC CCATGGATCC CCTGGGTGCA
 GCCAAGCCAC AATGGCCATG GCGCCGCTGT CTGGCCGCAC
 K
 GCTATTTCAG CTGCTGGTGG CTGTGTGTTT CTTCTCCTAC CTGCGTGTGT CCCGAGACGA
 TGCCACTGGA TCCCCTAGGG CTCCCAGTGG GTCCTCCCGA CAGGACACCA CTCCCACCCG
 CCCCACCCTC CTGATCCTGC TACGGACATG GCCTTTCCAC ATCCCTGTGG CTCTGTCCCG
 CTGTTCAGAG ATGGTGCCCG GCACAGCCGA CTGCCACATC ACTGCCGACC GCAAGGTGTA
 CCCACAGGCA GACATGGTCA TCGTGCACCA CTGGGATATC ATGTCCAACC CTAAGTCACG
 CCTCCCACCT TCCCCGAGGC CGCAGGGGCA GCGCTGGATC TGGTTCAACT TGGAGCCACC
 CCCTAACTGC CAGCACCTGG AAGCCCTGGA CAGATACTTC AATCTCACCA TGTCCTACCG
 CAGCGACTCC GACATCTTCA CGCCCTACGG CTGGCTGGAG CCGTGGTCCG GCCAGCCTGC
 CCACCCACCG CTCAACCTCT CGGCCAAGAC CGAGCTGGTG GCCTGGGCGG TGTCCAACTG
 GAAGCCGGAC TCAGCCAGGG TGCGCTACTA CCAGAGCCTG CAGGCTCATC TCAAGGTGGA
 CGTGTACGGA CGCTCCCACA AGCCCCTGCC CAAGGGGACC ATGATGGAGA CGCTGTCCCG
 GTACAAGTTC TACCTGGCCT TCGAGAACTC CTTGCACCCC GACTACATCA CCGAGAAGCT
 GTGGAGGAAC GCCCTGGAGG CCTGGGCCGT GCCCGTGGTG CTGGGCCCCA GCAGAAGCAA
 CTACGAGAGG TTCCTGCCAC CCGACGCCTT CATCCACGTG GACGACTTCC AGAGCCCCAA
 GGACCTGGCC CGGTACCTGC AGGAGCTGGA CAAGGACCAC GCCCGCTACC TGAGCTACTT
 TCGCTGGCGG GAGACGCTGC GGCCTCGCTC CTTCAGCTGG GCACTGGATT TCTGCAAGGC
 CTGCTGGAAA CTGCAGCAGG AATCCAGGTA CCAGACGGTG

  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
AY870341
dbSNP Blast Analysis

dbMHC locus: FUT3
  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source G/G
G/T
T/T
HWP G
T
ss35033226 PGA_CEPH-PANEL European 46 IG 1.000 1.000
PGA_YORUB-PANEL Sub-Saharan African 48 IG 0.042 0.458 0.500 0.439 0.271 0.729

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.238+/-0.250 47 47 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .