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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs7726005          
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_001114617.1:c.668G>A
NM_001114618.1:c.668G>A
NM_001114619.1:c.668G>A
NM_001114620.1:c.668G>A
NM_002406.2:c.668G>A
NM_002406.3:c.668G>A
NP_001108089.1:p.Arg223Gln
NP_001108090.1:p.Arg223Gln
NP_001108091.1:p.Arg223Gln
NP_001108092.1:p.Arg223Gln
NP_002397.1:p.Arg223Gln
NP_002397.2:p.Arg223Gln
NT_023133.12:g.25028890C>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 ss44600316 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7726005 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
ss11745973WI_SSAHASNP|chr5.NT_077451.2_3310571fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct07/04/0310/10/03116Genomicunknown
ss14860410SC_SNP|NT_077451.3_3310571fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct11/12/0311/22/03119Genomicunknown
ss16240526CGAP-GAI|1478193rev/TA/Gaggtggccccggacttcttcgagtactttcggccacctatccgctgctgaaggccgaccc11/18/0311/22/03120cDNAunknown
ss17852980CSHL-HAPMAP|CSHL-HuCC-200402.chr5.NT_077451.3_3310571fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct02/19/0403/04/04120Genomicunknown
ss44600316ABI|hCV1154016byFreqfwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct07/19/0511/03/06126Genomicunknown
ss65729547ILLUMINA|Human1-rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct10/10/0610/10/06127Genomicunknown
ss66724662ILLUMINA|HumanHap300v1.1_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct11/09/0611/09/06127Genomicunknown
ss67823046ILLUMINA|HumanHap550v1.1_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct11/14/0611/14/06127Genomicunknown
ss67986402ILLUMINA|HumanHap650Yv1.0_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct11/14/0611/15/06127Genomicunknown
ss70945992ILLUMINA|HumanHap550v3.0__rs7726005rev/TA/Gaggtggccccggacttcttcgagtactttcggccacctatccgctgctgaaggccgaccc04/20/0703/31/08130Genomicunknown
ss71550918ILLUMINA|HumanHap650Yv3.0_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct04/23/0704/23/07127Genomicunknown
ss75673848ILLUMINA|ILMN_Human_1M_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct08/28/0708/29/07129Genomicunknown
ss79267864ILLUMINA|HumanHap300v2.0_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct04/18/0711/18/07130Genomicunknown
ss80739111KRIBB_YJKIM|KHS1015319fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct11/26/0711/26/07130Genomicunknown
ss84713849KRIBB_YJKIM|KHS787722fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct12/04/0712/07/07130Genomicunknown
ss86237499CORNELL|hCV1154016fwd/TA/Ggggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct01/21/0801/21/08129Genomicunknown
ss93360638BCMHGSC_JDW|JWB-2084441fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct02/26/0803/04/08129Genomicunknown
ss105973598BGI|BGI_rs7726005fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct09/12/0806/18/09130Genomicunknown
ss116932102ILLUMINA-UK|NA18507_000227511_NCBI36.1_chr5_180151910fwd/BC/Tgggtcggccttcagcagcggataggtggccgaaagtactcgaagaagtccggggccacct01/17/0901/18/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7726005|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGCCCGTGGC TCACACCCTT GCGGCCAAAG GTCATCGTTC TTGAGATCTC AGGGCGTATG
 CAGGCCCGCC CCTGCCGCTG CTCCGGCCGC CGCATCCAGT CGTCCCAGAA GGCCTTTGGC
 CACTTGGGCT CCAGCTCAGC CCAGAGCTCG GCCAACAGCA GCCAGCCCAG GCCAGGGAAA
 AAGTCGGTGC GGTAGAGCAG CTCAGGCCTG CTGGCGTCCA CCATCTGCTC CTTGCCGTTG
 TCATTCCAGG CCGAGACGCA CCACAGGGAG GGGTCGGCCT TCAGCAGCGG ATAGGTGGCC
 Y
 GAAAGTACTC GAAGAAGTCC GGGGCCACCT CCAGGTCATC CTCCACCACC ACGGCCGCGG
 GGAAGCGAAA CTGCCGGAAG ACCTGGCCCA GCGCCCAGCG GTAGTGGCGC GCGATCTTGT
 AGTAGCCCTG GAACTTGCGG TGGTCCGGCG GCACCGCAAT GCTGCTCAGG TCGGGCTGCC
 GGATGTGCGT GACCGCGCTG CCGTAGGAGG CGATGGCCTG GGCCGTCTCC TCGTGCCCGC
 AGTCCTGGCT AACGATGATG GGGAAGAGCT CAGCCGAGGG CCGATAATGC AGCAGCTTGT

  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_077451 BG744010
dbSNP Blast Analysis
UniGene Cluster ID
519818

  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
ss44600316 HapMap-CEU European 120 IG 0.817 0.167 0.017 0.584 0.900 0.100
HapMap-HCB Asian 90 IG 0.622 0.333 0.044 1.000 0.789 0.211
HapMap-JPT Asian 88 IG 0.591 0.364 0.045 1.000 0.773 0.227
HapMap-YRI Sub-Saharan African 118 IG 0.610 0.322 0.068 0.527 0.771 0.229
ss80739111 KHP1 180 AF 0.744 0.256

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.305+/-0.244 1297 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
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .