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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3742819          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/130
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_152331.2:c.169T>C
NM_152331.3:c.169C>T
NP_689544.3:p.Arg57Cys
NT_026437.11:g.55058585C>T
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 ss40421316 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3742819 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
ss4928825YUSUKE|IMS-JST094002byFreqfwd/TA/Gcgggtgcgcgctccaggtccagctcgccgcggcgtcggcgcagtagcgcgcgtgggcccg07/29/0210/10/03107Genomicunknown
ss14386310WI_SSAHASNP|chr14.NT_026437.10_53978873rev/BC/Tcgggcccacgcgcgctactgcgccgacgccgcggcgagctggacctggagcgcgcacccg11/05/0311/22/03119Genomicunknown
ss40421316ABI|hCV2780871rev/BC/Tcgggcccacgcgcgctactgcgccgacgccgcggcgagctggacctggagcgcgcacccg07/17/0507/17/05126Genomicunknown
ss89993107BCMHGSC_JDW|JWB-0792403rev/BC/Tcgggcccacgcgcgctactgcgccgacgccgcggcgagctggacctggagcgcgcacccg02/26/0802/29/08129Genomicunknown
ss96868471HUMANGENOME_JCVI|1103649097620rev/BC/Tcgggcccacgcgcgctactgcgccgacgccgcggcgagctggacctggagcgcgcacccg03/27/0803/27/08130Genomicunknown
ss103198237BGI|BGI_rs3742819rev/BC/Tcgggcccacgcgcgctactgcgccgacgccgcggcgagctggacctggagcgcgcacccg06/05/0806/18/09130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3742819|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AGCCTGGCTC ACCTGGCGGC AGGAAGAGCG TGGCGCGCAC CCGGCCCGCT CGCACCGACT
 GGCGCCGCAC CCCTGGCGGG AGGAAGTGGC GCTCGTGCTG CGCCTGGCAC AGCAGCCGTC
 CAGGCTCGGG GTCGTGGCCG TCCAGCACCT CCAACTCCAC GACAAAAGGA ATCTGTACGT
 CCCGCTTCAG GAAGCGCCAA AAAGGCTTCT CGGGTTCCAG GGCCCAGAGC AGCCCCATGG
 GCTCGAGTCC CGCGAAGCTG CCGCCCAGCG CGGGTGCGCG CTCCAGGTCC AGCTCGCCGC
 R
 GGCGTCGGCG CAGTAGCGCG CGTGGGCCCG GAAGAGCGCG CCCTTCTCGT CGCGCAGGGA
 CGCGCGCAGC GTAACCCGCT GCTCCGGGGC CAGGCCGCGC ACGGCAATGC GCACCGGCTC
 GTTCCAGCAG CAGCGGCCTG GGGGCTCCAG GATCAGCGTT GCTGACATCT TGGAGCCGGA
 GCGGGGAATT CAAAGGTCGA GGCCCGAGAC CCGTCCAAGA TCGTGGCAAG CGCGCCGAAT
 GTCCGGACGG CGTCCGGCGT CCCCTGGTGC CGGAAGCTGC CGGTGGCTGA GCAGTCCCAG

  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
NT_026437 ABBA01030751
dbSNP Blast Analysis
UniGene Cluster ID
49433

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP A
 G
ss4928825 JBIC-allele 900 AF 0.689 0.311

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.429+/-0.175 1 0 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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .