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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4728329          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
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_020299.3:c.937G>A
NP_064695.2:p.Asp313Asn
NT_007933.14:g.59272707A>G
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 ss42940030 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4728329 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
ss6516968WI_SSAHASNP|NT_007933.10_59267173fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt02/12/0310/10/03111Genomicunknown
ss14583629WUGSC_SSAHASNP|chr7.NT_007933.13_59264127fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/05/0311/22/03120Genomicunknown
ss17189252CSHL-HAPMAP|CSHL-HuAA-200402.chr7.NT_007933.13_59264127fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt02/17/0403/04/04120Genomicunknown
ss20322803CSHL-HAPMAP|CSHL-HuFF-200402.chr7.NT_007933.13_59264127fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt02/21/0403/04/04120Genomicunknown
ss22606562SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_59264127fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt03/21/0403/21/04121Genomicunknown
ss42940030ABI|hCV2887802byFreqfwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt07/18/0511/03/06126Genomicunknown
ss66749211ILLUMINA|HumanHap300v1.1_rs4728329fwd/BA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/09/0611/09/06127Genomicunknown
ss67365985ILLUMINA|HumanHap550v1.1_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/14/0611/14/06127Genomicunknown
ss67750712ILLUMINA|HumanHap650Yv1.0_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/14/0611/14/06127Genomicunknown
ss70819600ILLUMINA|HumanHap550v3.0__rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt04/20/0703/30/08130Genomicunknown
ss71400920ILLUMINA|HumanHap650Yv3.0_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt04/23/0704/23/07127Genomicunknown
ss74810826AFFY|SNP_M-184470fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt08/09/0708/09/07128Genomicunknown
ss75703557ILLUMINA|ILMN_Human_1M_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt08/28/0708/29/07129Genomicunknown
ss76438374AFFY|AFFY_6_1M_SNP_A-8299373fwd/TA/Gggaagactatcccttcatgcagaatattgagg08/28/0708/30/07130Genomicunknown
ss76877657CGM_KYOTO|719993fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt09/12/0709/12/07129cDNAunknown
ss79191932ILLUMINA|HumanHap300v2.0_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt04/18/0711/18/07130Genomicunknown
ss82886050HGSV|Cor18555_SNV_20070510.chr7_133683082fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/27/0712/03/07130Genomicunknown
ss83582728HGSV|Cor19240_SNV_20070510.chr7_133683082fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt11/30/0712/05/07130Genomicunknown
ss84331700KRIBB_YJKIM|KHS686230fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt12/04/0712/07/07130Genomicunknown
ss93771216BCMHGSC_JDW|JWB-2377685fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt02/26/0803/05/08129Genomicunknown
ss95213803CNG|29945418fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt03/13/0803/13/08129Genomicunknown
ss98341172HUMANGENOME_JCVI|1103652710803fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt03/31/0803/31/08130Genomicunknown
ss105575711BGI|BGI_rs4728329fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt09/10/0806/18/09130Genomicunknown
ss1125575821000GENOMES|CEU.trio.12.15.2008_1861156_chr7_133876367fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt12/15/0812/17/08130Genomicunknown
ss1144740791000GENOMES|NA19240_2008_12_16_1676731_chr7_133876367fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt12/18/0812/18/08130Genomicunknown
ss116323978ILLUMINA-UK|NA18507_000164775_NCBI36.1_chr7_133876367fwd/TA/Gagatcctctcatttggaagactatcccttcatgcagaatattgaggttgaatctcctggt01/16/0901/17/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4728329|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTGTCACCTC GCCTGACACC AGGCTTACTA TGGGTTGTCA TTACGAGTTT ATTCTGCTGC
 CCTGCTCACT GTCTGCCCTC CTTCCGAGCA AAGCCCTCAT ATCGATTTGA GGGAAGGTCA
 AAGTGTGGGC ACCCTCCTTA TGTTCTTGCA GGGAGGAGGC TAAGAGAGCA CAAATATGAT
 AGAGTCCACC AGGGAAGAAT ACCTTCTCAA CCAGAGTTGT TGTTTTGATG GAACTCAGTT
 TCTCTGTTTT TGTTTTTTGT TCTTTCCTGC AGATCCTCTC ATTTGGAAGA CTATCCCTTC
 R
 ATGCAGAATA TTGAGGTTGA ATCTCCTGGT GAGATTATAC AGGAGATTCT CTTTCTTCGC
 TGAAGTGTGA CTACCTCCAC TCATGTCCCA TTTTAGCCAA GCTTATTTAA GATCACAGTG
 AACTTAGTCC TGTTATAGAC GAGAATCGAG GTGCTGTTTT AGACATTTAT TTCTGTATGT
 TCAACTAGGA TCAGAATATC ACAGAAAAGC ATGGCTTGAA TAAGGAAATG ACAATTTTTT
 CCACTTATCT GATCAGAACA AATGTTTATT AAGCATCAGA AACTCTGCCA ACACTGAGGA

  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_007933.14 ABBA01001110
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss42940030 HapMap-CEU European 120 IG 0.183 0.817 0.439 0.092 0.908
HapMap-HCB Asian 84 IG 1.000 1.000
HapMap-JPT Asian 74 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.054+/-0.155 1040 868 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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .