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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28399541          
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:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001731.1:c.416A>G
NM_001731.2:c.416A>G
NP_001722.1:p.Asn139Ser
NT_019546.15:g.16020147T>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 ss48419046 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28399541 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
ss32475327EGP_SNPS|BTG1-002645fwd/TA/Gcagcaggaggtagcactcaaaacagcaccacgtgcaaatggtagacagccgaatcagctg12/13/04125Genomicunknown
ss48419046APPLERA_GI|hCV25597725rev/BC/Tcagctgattcggctgtctaccatttgcacgtggtgctgttttgagtgctacctcctgctg09/28/0511/30/05126Genomicunknown
ss74886423ILLUMINA|ILMN_Human_1M_rs28399541fwd/TA/Gcagcaggaggtagcactcaaaacagcaccacgtgcaaatggtagacagccgaatcagctg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28399541|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GCGTTGTTTC TCTGTTCTTC TTTTCTTCTA TAGAACATTA TAAACATCAC TGGTTCCCAG
 AAAAGCCATG CAAGGGATCG GGTTACCGTT GTATTCGCAT CAACCATAAA ATGGATCCTC
 TGATTGGACA GGCAGCACAG CGGATTGGAC TGAGCAGTCA GGAGCTGTTC AGGCTTCTCC
 CAAGTGAACT CACACTCTGG GTTGACCCCT ATGAAGTGTC CTACAGAATT GGAGAGGATG
 GCTCCATCTG TGTGCTGTAT GAAGCCTCAC CAGCAGGAGG TAGCACTCAA AACAGCACCA
 R
 CGTGCAAATG GTAGACAGCC GAATCAGCTG TAAGGAGGAA CTTCTCTTGG GCAGAACGAG
 CCCTTCCAAA AACTACAATA TGATGACTGT ATCAGGTTAA GATATAGTCT GTGGATGGAT
 CATCTGATGA TGATGGATAA ATTTGATTTT TGCTTTGGGT GGGCTCCTCT TGGGGATGGA
 TTATGGAATT TAAACCATGT CACAGCTGTG AAGATCTGGC ACAAGATAGA ATGGTAAAAA
 AAAAAAAAAT TTTAAGTGAC AGTGCCATAG TTTGGACAGT ACCTTTCAAT GATTAATTTT

  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
AY850133
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source A/A
A/G
HWP A
G
ss32475327 PDR90 Global 174 IG 0.989 0.011 1.000 0.994 0.006
ss48419046 AGI_ASP population multiple 76 IG 0.974 0.026 1.000 0.987 0.013

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.016+/-0.088 648 528 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 .