NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs6996776          
refSNP ID: rs6996776
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NT_037704.4:g.278398C>T
XM_001714222.1:c.549-7454G>A
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 ss10450393 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6996776 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
ss10450393BCM_SSAHASNP|chr8.NT_037704.3_247549byFreqfwd/BC/Tagatggctcagagatcccttgtagacttccgggtacccatgtggtaacgttgcacctgtc06/29/0310/25/06116Genomicunknown
ss17956312CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_037704.4_278398fwd/BC/Tagatggctcagagatcccttgtagacttccgggtacccatgtggtaacgttgcacctgtc02/19/0403/04/04120Genomicunknown
ss44896871ABI|hCV1922253fwd/BC/Tagatggctcagagatcccttgtagacttccgggtacccatgtggtaacgttgcacctgtc07/19/0507/19/05126Genomicunknown
ss75223858ILLUMINA|ILMN_Human_1M_rs6996776fwd/BC/Tagatggctcagagatcccttgtagacttccgggtacccatgtggtaacgttgcacctgtc08/28/0708/29/07129Genomicunknown
ss76754740AFFY|AFFY_6_1M_SNP_A-8616138rev/TA/Gtaccacatgggtacccggaagtctacaaggga08/28/0708/30/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6996776|allelePos=630|totalLen=2990|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTGGGAAAGA ggccgggtgc gtggctcacg cctgtcatcc cagcacttcg ggaggccgag
 gcagaatgaa gaatctcatg ccaggggCCA GAAAGGAGGC TGAGACCAGA GTGTGAGTAG
 GAGTCAGCCC CCTCAGAGGT GGGACCAGAG AGGAGGCTCC TTAGGAAGCC ATAGTGAGGA
 GGACATGTGG GACAGGCTCA AGGATTGACA AAAGAACCAG TAAAAAAGAA TAGAATCTCa
 aaaaaaaaaa aaaaaaaaaa aaaaaaaggc caggcgcagt ggctcatgcc tgtaattcta
 gcactttggg aggccaaggt gggtggatca cttgaggtca ggagttcaag aatagcctgg
 ccgacatggt gaaaccgtgt ctctactgaa aatacaaaaa attagccagg cgtggtggca
 cacacctgta atcccagcta cccgggaggc tgaggcagga gaatggcacg aacccaggag
 gtagagcttg cagtgagctg agattgcgcc actgcactgc agcccgggca acagagcaac
 actccatctc gggaaaaaaa aaaacaatag ataaagaaaa ataaataaaa aaagaaaaGA
 GATGGCTCag agatcccttg tagacttcc
 Y
 gggtacccat gtggtaacgt tgcacctgtc aatggagtac agcagttcaa ggggatgttg
 acaccaatgt gctccattga ccttattcag atttcacagc tttccatgtg tctacctgtg
 tgtgtgtggt ttagttctgc gcatctgtca ctgtagggtt tgtgtgagcc catggccaag
 atgcagcaca gccaccatag ggacctcttg agctgccctc ttgcagccac agccacctcc
 ctttcccagc ctgaacccct gagagccact ggtatgttct ccatctgtat ggtttcacca
 ttacgagaat gctccataaa tggagtgctg cagggtgtgg gcgttgaggt cggcgtgatg
 tcctgaggtc catccagttg tgtgcactac tagtgtgttc ctttgactgg aggaaacgtc
 tatggtatgg atggacggac catcatgttt cacctgttac aagacatttg gttttttccc
 ccagtttttt gctattatga ataaagttgc catgaacatt tatgtagttt tttgtgtgac
 ttaatttttt ttattttttg agacagagcc tcacactgtt gccaggttgg agtgcagtgg
 tgtgatctcg cgccaccaca cctggctaat ttttgtattt gtagtacaga tggggttttg
 ccatgttagc caggctggtc ttgaactcct gacctcatgt gatcccgcct gccccagcct
 ccgaaagtgc tgggattaca ggcgtgagcc accacgcctg acttaaattt tcatttctct
 gggataaagg cccgtgagcg cagctgctgg gtggtttggg agttgcatgt tgagctgttt
 tggtttaaga aacttccaca ctgctctcca gagtggtggc tgttttattt cacaggtttt
 catcagctcc tgtgagattc ctttgtcctc acatccttgc cgtttggatt cgtgggcagc
 ggtatctcgc tgtggctcta atttgcattt tacgaatggc gggtgatgtt gagcatcttg
 tcacggacgc atttgccatc tgtgtatcct cttcagtgag gtgtgtcttt gcatcctctg
 cccattttct aattggatcg tttcattttt actgctgatt ttttgagact cgtgtgttct
 tgacagcagt cctttgttct gtgtgtggtc tgtggatatt tactcactca gtagctgtct
 tttcatcctc ctctcagggt ttttagcaag gcaaaagttt ttaatcttgt caaggtccag
 tttttccgtt ttccgtttta tagactgtgc ttttgctttt ggtgtcaCCA CTCTGTAGAA
 GTGCTATTAT TTTACCTTTA CGTTAGATTT GCATTTCACC TGGGGTGGGG GTCAAGATTC
 ttttcttttc ttctgttttt ttgttttttg attattttct gtcacccagt ctggagtgca
 gtggtgtgat ctcggctcac tgcaacctcc acctcccaga ttcaagcgat tctcctacct
 cagccttcag agtagctggg actacaggtg tgtggcacca caaccggcta attttttgta
 tttctagtag agacggggtt tcaccctgtt ggtctcgaac tcctgatctc aagcaatcct
 tccccctcag cctcccgaag tgctgggatt acaggcgtaa gtcactgcgc ctggccCCAG
 CACCATTTAT TGAAGGCTTT TCCACTCCCA GCAGTGTCAT AAATTGCATG TCTACACATG
 TGTAGGTTTA TTTCTGTTTT GTTTTGGGGA CAAAACAAAA CAGTCAgaga cagagtcttt
 ctctgtcccc caggctggag tgcagtgttg atttcggctc actgcaacct ctgcctccca
 ggctcaagtg atcttcccac ctcagcctcc caagtagctg gaactgcagg ggtgcaccac
 catgcctggc taatttttta aattttgtag agatgagagt ctccctgttt tgcctaggct
 ggccttgaat ccctgggctc aagtgatcct cctgcctcgg cctcccaaat tgctgggatt
 gcaggtgtga gctgccTCAT CTGGCAATtt tctggactca accgtattcc attggtttat
 ttctctatgc ctaagccagt aacttaggtc ttacttacca aactgtatat aataagtctt
 gacatctaat agtgtaagta cttcaaattt gttctctttc aggcttatcc ctagtgttct
 tggccttttg tgtttccata taagtggagc attagcttgt gagtctcaca ctgttggggt
 tttgattggg actacgtcaa atcttggatg aatttgggga gaaatgacat cttttcagtt
 ctgggttttg caacatataa

  GeneView back to top
GeneView via analysis of contig annotation: LOC100133015 hypothetical protein LOC100133015
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_037704->XM_001714222
function
CeleraNW_924018->XM_001714636
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_037704->XM_001714222->XP_001714274278398reverseintron
CeleraNW_924018->XM_001714636->XP_0017146882793249reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6996776 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839142.2594499140824102minusGalt_assembly_8HuRefHuRefview629
8NW_924018.12793249141886061plusCalt_assembly_1CeleraCeleraview629
8NT_037704.4278398145681794plusCref_assemblyreferencereferenceview629

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_037704
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss10450393HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.783 0.217 0.371 0.892 0.108

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.060+/-0.16327021000

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .