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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8051073          
refSNP ID: rs8051073
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_022097.2:c.*1220A>G
NT_010393.15:g.15083203A>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 ss12359827 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8051073 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
ss12359827WI_SSAHASNP|chr16.NT_010393.13_15043342byFreqfwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact07/04/0310/25/06116Genomicunknown
ss17566473CSHL-HAPMAP|CSHL-HuCC-200402.chr16.NT_010393.14_15082457fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact02/19/0403/04/04120Genomicunknown
ss23375846PERLEGEN|afd0961876byFreqfwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact08/10/0409/13/04123Genomicunknown
ss67865330ILLUMINA|HumanHap550v1.1_rs8051073fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact11/14/0611/14/06127Genomicunknown
ss68012614ILLUMINA|HumanHap650Yv1.0_rs8051073fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact11/14/0611/15/06127Genomicunknown
ss68294290ILLUMINA|HumanHap250Sv1.0_rs8051073fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact12/06/0612/07/06127Genomicunknown
ss70967265ILLUMINA|HumanHap550v3.0__rs8051073rev/BC/Tagtccagacttcaagggtccctcacagtaagggcatctcttgttttgcccgagcagagca04/20/0703/31/08130Genomicunknown
ss71577222ILLUMINA|HumanHap650Yv3.0_rs8051073fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact04/23/0704/23/07127Genomicunknown
ss75922824ILLUMINA|ILMN_Human_1M_rs8051073fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact08/28/0708/29/07129Genomicunknown
ss84777016KRIBB_YJKIM|KHS806728fwd/TA/Gtgctctgctcgggcaaaacaagagatgcccttactgtgagggacccttgaagtctggact12/04/0712/07/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8051073|allelePos=1219|totalLen=1419|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TCCGTTTGTG CCTTGGGCTT GCTCCTGCAA CCAGTATCTC CTTGGAATTC ATCCAAAGCC
 CCCATGGACG CATGGACGCA GGGCGACAAT AAACTGTATT TTCGTTTCTA ACTCTATTTA
 GGGCCAAGAG AAGAAAGCTG GAAGGATGTG TACTAAAGTC TAGCTcagca gtccccaacc
 tttttggcat cagggacagt ttttccacgg atgggtgaca ggggatggtt ttgggatgat
 tcaagtgcat tacatttatt gtgcacttta tttctattat gattacattg taatatataa
 tgaaataatt atacaactca ccataatgta gaatcagcag gagccctgag cttgttttcc
 tgcaattaga cggtcccata tgggagtgat gggagacagt gacagatcat caggcattag
 attctcataa ggagtgcaca atctagatcc tttggtgtgc agttcacagt aggatttggg
 ctcctatgat aatctaatgc cactgctgat ctgacaggag gcagagctca ggcggtaatg
 caagcaatgg ggagtggctg taaatataga tgaagcttca gctcgcctgc cgctcacctt
 gtgctgtgca gcccggttcc taacagacca cagaccCCAC ACCAGGTCTA TCTCATTTGG
 TCTCAGAGCT Gtgaatcagc cagcaatatt ttagttgcaa atcactgaaa acccaactca
 aagtgactta agtcagaaag aaattttatg aattcaggta attaaaaagt ccagaagtat
 ctgcctttag gcacagctgg atccaagggc acaaatgatg tcatcaggct ccagttattc
 tccatctccc agctcagctt tttctgtctg taagcctgat tttcaggaag gctctttcct
 agtgatggag atgaccacca tcagctccag gcttctatcc tgctaaccca gtaacccagt
 gggaagagat ttacttattc caataattcc aagtggagag tgtcattgac ccgtttgggg
 tctcatctct acttctaggg gaatgaaaca ctctgagtgg ccaggcctgt gtcatgtgct
 aattcctaga gccagggaaa taaggtctga ggattcagga tggggtgaaa ggtggttgct
 taaaggaaaa tgaaatacaa ttagcagaat aaggggaaac gagtggtctg ctctgctcgg
 gcaaaacaag agatgccc
 R
 ttacTGTGAG GGACCCTTGA AGTCTGGACT CTTAAATGGG TTTTTGCTGA TTTCCTGGGT
 GCATGCTAGG ATGATGGGGC TTGATGCAGT AGGGAAGAGA CGATGTAAAA ATAATAAACA
 ATATATACCT TCCTAGAGTG TGAATGCATT CGAAGATTCT AAGAGTAAGC TTGTTTTCAT
 GGTAAGATGT TCAAACATTG

  GeneView back to top
GeneView via analysis of contig annotation: CHP2 calcineurin B homologous protein 2
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_010393->NM_022097
svfunction
HuRefNW_001838401->NM_022097
svfunction
CeleraNW_926217->NM_022097
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_022097->15083203forward22343' UTR
HuRefNW_001838401->NM_022097->299479forward22343' UTR
CeleraNW_926217->NM_022097->1068490forward22343' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8051073 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_001838401.129947921859720plusAalt_assembly_8HuRefHuRefview1218
16NW_926217.1106849022548286plusAalt_assembly_1CeleraCeleraview1218
16NT_010393.151508320323677625plusAref_assemblyreferencereferenceview1218

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC130454.2 NC_000016.8 AC012185.4
UniGene Cluster ID
178589

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss12359827HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.733 0.250 0.017 1.000 0.858 0.142
ss23375846AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.870 0.130 0.752 0.935 0.065
AFD_CHN_PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.069+/-0.17233226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .