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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7271761          
refSNP ID: rs7271761
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_021081.3:c.308+632T>C
NT_011362.9:g.934896A>G
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 ss10967009 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7271761 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
ss10967009BCM_SSAHASNP|chr20.NT_011362.8_934896byFreqfwd/TA/Ggcggtctccatcagacactttccacccttctgactaaagaactctcctaatattgattga06/30/0310/25/06116Genomicunknown
ss23781801PERLEGEN|afd0392108byFreqfwd/TA/Ggcggtctccatcagacactttccacccttctgactaaagaactctcctaatattgattga08/10/0409/13/04123Genomicunknown
ss66198960AFFY|SNP_A-2276719byFreqrev/BC/Tgagagttctttagtcagaagggtggaaagtgt10/27/0603/31/08127Genomicunknown
ss76284249AFFY|AFFY_6_1M_SNP_A-2276719rev/BC/Tgagagttctttagtcagaagggtggaaagtgt08/28/0708/30/07129Genomicunknown
ss80644418HGSV|Cor18507_SNV_20070510.chr20_35315395fwd/TA/Ggcggtctccatcagacactttccacccttctgactaaagaactctcctaatattgattga11/23/0711/26/07130Genomicunknown
ss86159443HGSV|Cor18517_SNV_20070510.chr20_35315395fwd/TA/Ggcggtctccatcagacactttccacccttctgactaaagaactctcctaatattgattga12/06/0712/11/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7271761|allelePos=201|totalLen=838|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AGGGAACCAG AGCATGCCTG TCAGTTCACC TGCAGCCGAA TCCTTGGGAA CACCTGTTAA
 AATTCAGATT TCTGGGTCGT ATCACGGAAC CATTTGGTGA GTAACATTTT TGGGCATGGA
 CACTGAGCCT GGCCTCTGGC TCCGCACTGG GATACAGCCA TGGATAAGAT GCGGTCTCCA
 TCAGACACTT TCCACCCTTC
 R
 TGACTAAAGA ACTCTCCTAA Tattgattga ttgattgact gattgagacg ggatctcact
 atattgggca agctggtctc aaactcctgg cctccagtga tccttcccca tcagcctccc
 aaagtgctgg gattataggc atgagccact gcacctggGC ACTCCCCTAG ttcttcttct
 ttttttattt tagacagagt cttgctctgt cacccaggct ggagtgtaat ggtgcgatct
 cagctcactg caacctccgc ctcccagctt caagcgattc tcctgcctca gcctcccgag
 tggctgggat tacaggcgtg agccactaca cctggctcat ttttgtattt gtaatagaga
 cagggttttg ccatgttggc caggttggtc ttgaactccc gacctcagat gatccaccca
 ccttggcctc ccaaagtgtt gggattacag gtgagccacc atacccagcc ACTCTCCTAG
 TTCTTAATGT CTGTCAGGAG GGTCCTTGTT CTTGGTTTGT TTGGCAGAGC CCCATACCTT
 CAGAGAGGAG TGGATTTTTT CCTTTTCCTG GCAAACCACG GGGTAGGAAG CCCTGAAGTC
 CCTAGATGCA CCCATGCACA CACACCCATA CCTGTGC

  GeneView back to top
GeneView via analysis of contig annotation: GHRH growth hormone releasing hormone
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_011362->NM_021081
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011362->NM_021081->NP_066567934896reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7271761 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
20NW_927339.1609237032589261plusAalt_assembly_1CeleraCeleraview200
20NW_001838665.193748432617573plusAalt_assembly_8HuRefHuRefview200
20NT_011362.993489635315395plusAref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011362
dbSNP Blast Analysis
GenBank HTGS Finished:
AL031659.9

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss10967009HapMap-CEUEuropean 120IG 0.950 0.050 1.000 0.975 0.025
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.300 0.467 0.233 0.655 0.533 0.467
ss23781801AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.609 0.348 0.043 1.000 0.783 0.217
AFD_CHN_PANELAsian 48IG 1.000 1.000
ss66198960HapMap-CEUEuropean 118GF 0.949 0.051 0.975 0.025
HapMap-HCBAsian 90GF 1.000 1.000
HapMap-JPTAsian 90GF 1.000 1.000
HapMap-YRISub-Saharan African 120GF 0.300 0.467 0.233 0.533 0.467

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.227+/-0.2493322602690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .