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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs26722          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001012509.1:c.814G>A
NM_016180.3:c.814G>A
NP_001012527.1:p.Glu272Lys
NP_057264.3:p.Glu272Lys
NT_006576.15:g.33936627C>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 ss44664736 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs26722 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
ss37527KWOK|OVLP-43633rev/TA/Gtcagatggaatgtacgagtatggttctatcagaaagttaaaaatggttacgtaaatccag04/28/0010/10/0376Genomic99 %
ss38844KWOK|OVLP-69747byFreqfwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga04/28/0004/07/0476Genomic99 %
ss1181391KWOK|OVLP-000804-593128fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga09/02/0010/10/0386Genomic99 %
ss1181825KWOK|OVLP-000804-594231rev/TA/Gtcagatggaatgtacgagtatggttctatcagaaagttaaaaatggttacgtaaatccag09/02/0010/10/0386Genomic99 %
ss1581079KWOK|OVLP-000925-159889rev/TA/Gtcagatggaatgtacgagtatggttctatcagaaagttaaaaatggttacgtaaatccag10/04/0010/10/0387Genomic99 %
ss1581712KWOK|OVLP-000925-163470fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga10/04/0010/10/0387Genomic99 %
ss3249660YUSUKE|IMS-JST059745byFreqrev/TA/Gtcagatggaatgtacgagtatggttctatcagaaagttaaaaatggttacgtaaatccag09/05/0110/10/03100Genomicunknown
ss3739367SC_JCM|AC026707.4_30531fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga09/25/0110/10/03100Genomicunknown
ss6723679WI_SSAHASNP|NT_023085.10_383834fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga02/12/0310/10/03111Genomicunknown
ss10250689BCM_SSAHASNP|chr5.NT_006576.13_16390063fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga06/27/0310/10/03116Genomicunknown
ss24016101PERLEGEN|afd3693055byFreqfwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga08/10/0409/13/04123Genomicunknown
ss44664736ABI|hCV2390575byFreqfwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga07/19/0511/03/06126Genomicunknown
ss65727106ILLUMINA|Human1-rs26722fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga10/10/0610/10/06127Genomicunknown
ss68931903PERLEGEN|PGP03693055byFreqfwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga01/30/0708/14/07127Genomicunknown
ss74811607AFFY|SNP_M-185735fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga08/09/0708/09/07128Genomicunknown
ss74873869ILLUMINA|ILMN_Human_1M_rs26722fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga08/28/0708/29/07129Genomicunknown
ss83338827HGSV|Cor18956_SNV_20070510.chr5_33999627fwd/BC/Tctggatttacgtaaccatttttaactttctgatagaaccatactcgtacattccatctga11/30/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs26722|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGCTCTGAGA GGAGTAAGAG ACAGGAGGAC CAGAGGAAAA TGCAGACATT TTTCTTTGAG
 ATATAAAATT TTAATTCCAA GGGATGATAG CTACGGGGGA TTTGGGAATT CAGTTAGACC
 CCATGAAACT CTTCTCGTCA AACAGACAAA ACAAACAATT AAAAAAACAA CAACAACAAA
 GAGCAAGAAT ATTTTCCCTT GTAAAGAAAA AATGTTGCAT CTTTACCTGT TCAGCATGAT
 TTTTGTTTTT TGCTCCCTGC ATTGCCAGCT CTGGATTTAC GTAACCATTT TTAACTTTCT
 Y
 GATAGAACCA TACTCGTACA TTCCATCTGA TGACAATGGA GGGTCCTGAG GGGTTTGCTG
 TGGGGGAATG CCCTTTGCAA CCTCTGTAAG TGGGGCTTCA GAGATACTGC ACAGATGAAC
 AGTAAAACAC AAAGTGAGCA CCAATGCAGA GAAGAAGAAC ATGACCTGGA ATTCTGTACC
 CAACAGTCTT CCCAGCTCCA GATGGGCCCA GTCTATAGCA CCCAAAAGGT AACCCAGGGC
 ACCTCCAAAA CCTGGAAAGC AAGAAAAGCT ATGTTAGCAT ATTTAGCAAA TTATCGTTCA

  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_006576 AC008939 AC008954 AC008971 AC026707.4
dbSNP Blast Analysis

  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
ss24016101 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.783 0.174 0.043 0.273 0.870 0.130
AFD_CHN_PANEL Asian 48 IG 0.208 0.667 0.125 0.100 0.542 0.458
ss3249660 JBIC-allele 1498 AF 0.665 0.335
ss38844 SC_12_A Asian 22 IG 0.364 0.545 0.091 0.584 0.636 0.364
SC_12_AA African American 22 IG 0.818 0.182 0.752 0.909 0.091
SC_12_C European 14 IG 1.000 1.000
ss44664736 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 0.356 0.511 0.133 0.655 0.611 0.389
HapMap-JPT Asian 88 IG 0.364 0.455 0.182 0.752 0.591 0.409
HapMap-YRI Sub-Saharan African 120 IG 0.900 0.100 0.752 0.950 0.050
AoD_African_American 90 AF 0.910 0.090
AoD_Caucasian 92 AF 0.980 0.020
AoD_Chinese 90 AF 0.600 0.400
AoD_Japanese 90 AF 0.640 0.360
ss68931903 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 0.356 0.511 0.133 0.611 0.389
HapMap-JPT Asian 90 GF 0.378 0.444 0.178 0.600 0.400
HapMap-YRI Sub-Saharan African 120 GF 0.900 0.100 0.950 0.050

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict		 Additional Freq. Data
0.302+/-0.245 1291 1071 282 0 ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP, NCBI
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .