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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4325          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000789.2:c.2058+467G>C
NM_152830.1:c.336+467G>C
NT_010783.14:g.20215211C>A
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 ss23142634 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4325 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
ss4714DEBNICK|dcp1-11405fwd/TA/Cggtgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg05/03/9912/23/0336Genomicunknown
ss23142634PARC|ACE-011121byFreqfwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg05/07/0405/16/04126Genomicunknown
ss69365647PHARMGKB_PARC|PS205301_PA141144424_11121byFreqfwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg03/22/0708/14/07127Genomicunknown
ss76698524AFFY|AFFY_6_1M_SNP_A-8560002rev/BG/Tatttttaaggaaagaaaattgctcaggcattg08/28/0708/30/07129Genomicunknown
ss84149300PHARMGKB_PARC|PS206642_PA151794545_11121fwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg12/06/0712/10/07130Genomicunknown
ss90634007BCMHGSC_JDW|JWB-1038646fwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg02/26/0802/29/08129Genomicunknown
ss104807800KRIBB_YJKIM|KHS1200136fwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg07/10/0807/10/08130Genomicunknown
ss1098558831000GENOMES|CEU.trio.12.15.2008_3421256_chr17_58916932fwd/TA/Cgatgaacatttactcaatgcctgagcaattttctttccttaaaaatcagtctctgggagg12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4325|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CTGGCTAACA CGGTGAAACC CATCTCTAGT AAAAATACAA AAATTAGCCG GGTGTGGTGG
 CGAGCACCTG TAGTCCCAGT ACTCAGGAGG CTGAGGCAGG AGAATGGCAT GAACCCGGGA
 GGCAGAGCTT GCAGTGAGCC GAGATGGCAC CACTGCACTC CAGCCTGGGC GACAGAGCGA
 GACTCCATCA AAAAAAAAAA AAAAAAAAAC TCAATTTCAG ATTTTGATGA ACATTTACTC
 AATGCCTGAG CAATT
 M
 TTCTTTCCTT AAAAATCAGT CTCTGGGAGG CCTAGGTGGG AGGATCACTT GAAGCCAGGA
 GTTGGAGACT AGCCTGGGCA ACATAGCAAG ATCCCATCTC TATTCAAACA AACAAATAAA
 CAAAAATCAA TCTCTAGTAA CAGAATAATT TGTACATAAA TAAGTGGTGC TCAAGTCGTT
 TTTTAAAAGA TTGAAAGCCT CTGTTTGTCT CCTCTACAAA AGGGGCTACA CTTCCTCTTT
 ACCCTCATTC CCTGC

  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
AY436326
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 HWP A
 C
ss23142634 PARC-EUROPEAN-PANEL European 46 AF 0.370 0.630
HapMap-CEU European 120 IG 0.267 0.433 0.300 0.483 0.517
HapMap-HCB Asian 90 IG 0.022 0.444 0.533 0.244 0.756
HapMap-JPT Asian 90 IG 0.156 0.556 0.289 0.433 0.567
ss69365647 PA141144428 946 AF 0.335 0.665
ss84149300 PA151794546 94 AF 0.255 0.745

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.479+/-0.101 1207 1002 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .