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: rs6006470          
refSNP ID: rs6006470
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_015380.3:c.1364+1710G>C
NT_011521.4:g.491596G>C
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 ss11000777 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6006470 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
ss8303931SC_SNP|NT_011521.1_471057fwd/BC/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt04/17/0310/10/03114Genomicunknown
ss11000777BCM_SSAHASNP|chr22.NT_011521.2_484098byFreqfwd/BC/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt06/30/0310/25/06117Genomicunknown
ss13369820SC_SNP|NT_011521.2_484098fwd/BC/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt10/22/0310/31/03119Genomicunknown
ss24098778PERLEGEN|afd0138428byFreqfwd/BC/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt08/10/0409/13/04123Genomicunknown
ss66337387AFFY|SNP_A-1937278byFreqrev/TC/Gttgaaaccgggttaagctccaacagcaccacc10/29/0603/31/08127Genomicunknown
ss76038908AFFY|AFFY_6_1M_SNP_A-1937278rev/C/Gttgaaaccgggttaagctccaacagcaccacc08/28/0708/29/07129Genomicunknown
ss83573978HGSV|Cor18956_SNV_20070510.chr22_42712897fwd/C/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt11/30/0712/05/07130Genomicunknown
ss84043757HGSV|Cor19240_SNV_20070510.chr22_42712897fwd/C/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt11/30/0712/06/07130Genomicunknown
ss85517844HGSV|Cor19129_SNV_20070510.chr22_42712897fwd/C/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt12/06/0712/09/07130Genomicunknown
ss91935779BCMHGSC_JDW|JWB-1532537fwd/C/Gtgttgccaccaaatggtggtgctgttggagcttaacccggtttcaaataggttgtagttt02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6006470|allelePos=1176|totalLen=1376|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 TATATAAACA AATTCTATTT CTTACATGCA TTGTGTAAAA tttttttttt ttttgagaca
 gactctcatt ctgtcgccca ggctggtgtg caatagcacg atcttggctc actgcaacct
 ctgcctccca ggttcaagag attctcctgc ctcagcctcc tgagtagttg ggattacagg
 catgcgtcac cacacccggc taattttttg tatatttagt agagacaggg tttcaccatg
 ttggtcaggg tggtgtcaaa ctcctgacct cgtgatctgc ctgcctcagc ctcccaaagt
 gctgggatta taggcatgag ccaccacgcc cggcAttttt tttttttttt ttttttgaga
 ctcggtcttt ctctgtcacc cagctggagt acaatggcct gaccatggct cactgcagcc
 ttgacctcct gggctcaagt gatccccctg cctcagcctc ccaagtagct gggactacac
 accaggctaa tttttgtatt ttttgtagag acagggtttt accacattgc ccacccaggc
 tggtcttgaa ttcctgggct caagccatct gcccgcattg gcctcccaaa gtactgggat
 tacaggtatg agccaccgca cccagctGCG TTGTGTAAAT TTTAAGAGAT TCAGACGTGT
 TTTCATTATA GTGtatctcg gtcagctcag gctgccatca caaaatacca tggagtattt
 aagagtgact taaacaacag atgttcatac tctgccagtt ctggaggttg gaaagtccaa
 gatcagggtg ctggcagatt tggttgctgt tgggttctct tcttggctcg cagatggcag
 ccttgccact gtgtcctcac ttggaggagg aagagtgcag gccagtgccc cgatgcctct
 tcttatgcgg cccctaattc catcacgagg gccccatctt cgttacctcg tctgcacctc
 agcacctccc aaaggcctgc ctccaggtat caacaccatc ctgtcagggt tagggcttca
 gcatgtgaat cttgtgggga catgaatgtt cagtccacaa caGTGTTCAT ACTGTCTCTT
 ATTTTTGTAT ATGCATTCAC AGCACCCCAG CCTGTTTTTT CTCTTCATTT TTGTGTCTAC
 CTTTATGTTG CCACCAAATG GTGGTGCTGT TGGAG
 S
 CTTAACCCGG TTTCAAATAG GTTGTAGTTT GTGCCAGTTG AAGGAAATGC TGTATCATTT
 TTACTCTCTC CGTCTTCCGC ATCAGCATGT AGGGGATGGT GCTTTGTAAA GGGGAGCCGC
 ATTCGCAAGT GTTTCTGAGC ATCGCCTCTC AGGTGCAGTC TGCGTCTGTC ATTCAGGTCC
 TTTACGGTTA TTGCTTCAGC

  GeneView back to top
GeneView via analysis of contig annotation: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)
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_011521->NM_015380
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011521->NM_015380->NP_056195491596forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6006470 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
22NW_001838749.150104827341857plusGalt_assembly_8HuRefHuRefview1175
22NW_927650.1147923028299597plusGalt_assembly_1CeleraCeleraview1175
22NT_011521.449159642719329plusGref_assemblyreferencereferenceview1175

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011521
dbSNP Blast Analysis
GenBank HTGS Finished:
AL035398.19

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss11000777HapMap-CEUEuropean 118IG 0.441 0.458 0.102 1.000 0.669 0.331
HapMap-HCBAsian 90IG 0.667 0.311 0.022 0.752 0.822 0.178
HapMap-JPTAsian 90IG 0.800 0.200 0.900 0.100
HapMap-YRISub-Saharan African 120IG 0.883 0.117 0.655 0.942 0.058
ss24098778AFD_EUR_PANELEuropean 48IG 0.583 0.333 0.083 0.655 0.750 0.250
AFD_AFR_PANELAfrican American 46IG 0.696 0.261 0.043 0.752 0.826 0.174
AFD_CHN_PANELAsian 48IG 0.542 0.375 0.083 1.000 0.729 0.271
ss66337387HapMap-CEUEuropean 118GF 0.441 0.441 0.119 0.661 0.339
HapMap-HCBAsian 90GF 0.667 0.311 0.022 0.822 0.178
HapMap-JPTAsian 90GF 0.800 0.200 0.900 0.100
HapMap-YRISub-Saharan African 120GF 0.883 0.117 0.942 0.058

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.295+/-0.2463322602690

  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 .