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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1732301          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_033045.3:c.593G>A
NP_149034.2:p.Ser198Asn
NT_029419.11:g.14920842C>T
XM_001718424.1:c.1357+3147G>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 ss48416259 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1732301 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
ss2572754SC_JCM|AC078865.7_79402fwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct11/03/0010/10/0389Genomicunknown
ss48416259APPLERA_GI|hCV9605787byFreqfwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct09/28/0511/03/06126Genomicunknown
ss69109165PERLEGEN|PGP04749717byFreqfwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct01/30/0708/14/07127Genomicunknown
ss74816980AFFY|SNP_M-314223fwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct08/09/0708/09/07128Genomicunknown
ss74855722ILLUMINA|ILMN_Human_1M_rs1732301fwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct08/28/0708/29/07129Genomicunknown
ss76775844AFFY|AFFY_6_1M_SNP_A-8637200rev/TA/Gctagagaccaagtggacttcctccaagagcag08/28/0708/30/07129Genomicunknown
ss79911796HGSV|Cor18507_SNV_20070510.chr12_51063803fwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct11/23/0711/24/07130Genomicunknown
ss118808090ILLUMINA-UK|NA18507_000067175_NCBI36.1_chr12_51063803fwd/BC/Tctcctgatacatttctgctcttggaggaagtccacttggtctctaggagcttattctgct01/21/0901/21/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1732301|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CACCCCCACC TCCCCAGGCT TGATGTGGTA ACCAGCATTC AACCCTGATC CTTCCAGCTG
 CTCTCATCTG AGCTTGGCAG CTAATTCTGG GGCCAGGCCT GGCCTGTCAC TGGTCTGTGC
 AGCTCAGATG TCACTCACTT CTTCTTGAAG CCCTCTAGGA CATCCTGCAG GTGGTTCCTC
 TCAGCCTGGA GCCGGGCCTG ATCACTGACC AGCACCTCCA ACTGCCTCCG CAGGTTGGTG
 ATGTAGCTCT CGAAGAGTGG CTCCAGATTG CTCCTGATAC ATTTCTGCTC TTGGAGGAAG
 Y
 TCCACTTGGT CTCTAGGAGC TTATTCTGCT GCTCTAGGAA CCGAACCTAA ATCCACAGGG
 CACAGAAATG GCATTTGAAG TGCTTGATAG GGTTCATGCC TTGACCAAGC TCTTGAGATG
 GCCAGCGATG ACTTGACCAC ATGTCGACAG GGTTCTCTCC TCTGCTGACT TTCATTCCTC
 CACTAACTCA GCAGAAGCTG GAAGGGCAGG TTGTGACTCC CTCCTTGTGC TCGGCTAGGC
 CTAGTTACCA ATATGGGGTT TTGAACCATA GCACTTCAGT ACCATTCCCC TATCCAGTCT

  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
NC_000012.9 AP002519
dbSNP Blast Analysis
UniGene Cluster ID
272336

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss2572754 CEPH 184 AF 1.000
ss48416259 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 0.793 0.207 0.897 0.103
AGI_ASP population multiple 70 IG 0.914 0.057 0.029 0.010 0.943 0.057
ss69109165 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.783 0.217 0.892 0.108
Concordant Genotype Total Sample C/C C/T T/T
ss48416259 906 636 78 2
RefSNP Genotype Summary Total Individual C/C C/T T/T
rs1732301 907 636 78 2
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
161 ss48416259 C/C CSHL-HAPMAP HapMap-CEU NA07029 CEPH1340.01 r27_ch12_CEU_bcm:genotype_0002
Genotype data submitted for907 samples from907 individualsIndividual with multiple genotypes submission:0

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

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Revised: May 25, 2006 1:38 PM .