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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs7115499          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
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_006656.5:c.143G>A
NP_006647.3:p.Arg48Gln
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 ss88641517 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7115499 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
ss10673626BCM_SSAHASNP|chr11.NT_033927.5_4904631byFreqfwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg06/29/0310/25/06116Genomicunknown
ss66657609ILLUMINA|HumanHap300v1.1_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg11/09/0611/09/06127Genomicunknown
ss67542288ILLUMINA|HumanHap550v1.1_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg11/14/0611/14/06127Genomicunknown
ss67915044ILLUMINA|HumanHap650Yv1.0_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg11/14/0611/15/06127Genomicunknown
ss69320646PERLEGEN|PGP04753241byFreqfwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg01/30/0703/31/08127Genomicunknown
ss70909157ILLUMINA|HumanHap550v3.0__rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg04/20/0703/31/08130Genomicunknown
ss71506390ILLUMINA|HumanHap650Yv3.0_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg04/23/0704/23/07127Genomicunknown
ss74815918AFFY|SNP_M-311497fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg08/09/0708/09/07128Genomicunknown
ss75504557ILLUMINA|ILMN_Human_1M_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg08/28/0708/29/07129Genomicunknown
ss79246168ILLUMINA|HumanHap300v2.0_rs7115499fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg04/18/0711/18/07130Genomicunknown
ss84617753KRIBB_YJKIM|KHS759775fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg12/04/0712/07/07130Genomicunknown
ss86244300CORNELL|hCV25606735fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg01/21/0801/21/08129Genomicunknown
ss88641517BCMHGSC_JDW|JWB-0443533fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg02/26/0802/27/08129Genomicunknown
ss97489365HUMANGENOME_JCVI|1103649725195fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg03/29/0803/29/08130Genomicunknown
ss1106644021000GENOMES|CEU.trio.12.15.2008_2571352_chr11_74383250fwd/TA/Gcaacatgctccttcaacagccctctgttccgcaggaagatgacagagggattacctaccg12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7115499|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGAAATTCTC ATTTGTTAAA CAAGAATGTA TATTGCTTGC TTTGTGCTAT TGAGAGCATA
 TGTTATTCTT GTATAAAGAA ACATTTGAAT ATATCTGTGC CCCCCCACCT TTGCTCTCCA
 GAAGTGAAAT GATGAAGCAG AATTTATATG CAGGCCAGCA TCTGGGTATG GACACACATT
 AAGCTTCCTT CTATCCTTGC AGAGGTCATG GAAGAAGTGA CAACATGCTC CTTCAACAGC
 CCTCTGTTCC
 R
 GCAGGAAGAT GACAGAGGGA TTACCTACCG GATCCCAGCC CTGCTCTACA TACCCCCCAC
 CCACACCTTC CTGGCCTTTG CAGAGAAGCG TTCTACGAGG AGAGATGAGG ATGCTCTCCA
 CCTGGTGCTG AGGCGAGGGT TGAGGATTGG GCAGTTGGTA CAGGTGACTC TTCATCCCAG
 ATCTGAGTCT GGGCCTCAGT TTCTCTTCAC AAAGCTCAGA GCTCTTCAGG ATCTGTGCCT
 TTTCTCATCA

  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_033927 ABBA01017474
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
ss10673626 HapMap-CEU European 120 IG 0.133 0.867 0.584 0.067 0.933
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.033 0.967 1.000 0.017 0.983
ss69320646 HapMap-CEU European 120 GF 0.133 0.867 0.067 0.933
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 0.033 0.967 0.017 0.983

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.046+/-0.145 1048 903 270 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 .