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: rs10139180          
refSNP ID: rs10139180
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
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 ss13998298 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10139180 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
ss13998298WI_SSAHASNP|chr14.NT_026437.10_636969byFreqfwd/TA/Catcttttaccccacaagaactcaggaagtgaacatgtccgaacaaacagtgaacaggcaa11/05/0305/17/04119Genomicunknown
ss19297754CSHL-HAPMAP|CSHL-HuDD-200402.chr14.NT_026437.10_636969fwd/TA/Catcttttaccccacaagaactcaggaagtgaacatgtccgaacaaacagtgaacaggcaa02/20/0403/04/04120Genomicunknown
ss24226586PERLEGEN|afd1436470byFreqfwd/TA/Catcttttaccccacaagaactcaggaagtgaacatgtccgaacaaacagtgaacaggcaa08/10/0409/13/04123Genomicunknown
ss66244076AFFY|SNP_A-4273678byFreqfwd/TA/Caagaactcaggaagtgaacatgtccgaacaaa10/27/0603/31/08127Genomicunknown
ss69149807PERLEGEN|PGP01436470byFreqfwd/TA/Catcttttaccccacaagaactcaggaagtgaacatgtccgaacaaacagtgaacaggcaa01/30/0703/31/08127Genomicunknown
ss76389542AFFY|AFFY_6_1M_SNP_A-4273678fwd/TA/Caagaactcaggaagtgaacatgtccgaacaaa08/28/0708/30/07129Genomicunknown
ss89868827BCMHGSC_JDW|JWB-0744002fwd/TA/Catcttttaccccacaagaactcaggaagtgaacatgtccgaacaaacagtgaacaggcaa02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10139180|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 cactgcactc caatctgggc aacagagcaa gaccctgtct ccagaaaaaa aaaaaaaaaa
 aaagagagaa aAGAAAGAAA GGAAAAGGGG TATATTGGTT AATAGAATTT TCTAGTTAAC
 TGCTGACCAG AAAAAAAAAA AAAAAAACTT TGATACTGAG TATTAAAGCA TTCCAggctg
 ggtgcagtgg cttttccctg taatctgaaa agggaggatc acttgaggcc aggagttgga
 gaccagctgg acaacatagt gagaactcca tctttaaaaa aaaaaaatta gccaggcgtg
 gtggcgactt gggagactga ggtgggagga ttgcttaatc ctgggaggtt gaggtttcag
 tgagttgtga ttatgccact gcactccagc caaggagaac ttgtctcaaa aaaaaaaaaT
 CTAAAGTCTA TGTTCCCACC TTTATACTTT ATTACGTTGA AAATAATTTA ATCTTTTACC
 CCACAAGAAC TCAGGAAGTG
 M
 AACAtgtccg aacaaacagt gaacaggcaa tcaaatgatg ggggtttcca atcccagctc
 aacaccaact agctatgtgt ccttacacag gacacctgac ctctctggtc tcagctctct
 tatctgtaaa ataagaaact tgaacaaagt gaATTTTCTT TCTTTTTTTT TTAAAtttta
 ttattattat actttaagtt ttagggtaca tgtgcacaac gtgcatgttt gttacatatg
 tatacatgtg ccatgttggt gtgctgcatc cattaactca tcatttaaca ttaggtatat
 ctcctaatgc tatccctccc cctcccccca tcccacaaca gggcctggtg tgtgatgttc
 cccttcctgt gtccatgtgt tctcattgtt cagttcccac ctatgagtga gaacatgcag
 tgtttggttt tttgtccttg tgatagtttg ctgagaatga tggtttccag cttcatccat
 gtccctacaa aggaaatgaa

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10139180 maps exactly once on NCBI human chromosome 14
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
14NW_925539.1520165578043plusCalt_assembly_1CeleraCeleraview500
14NW_001838110.1527818838994plusCalt_assembly_8HuRefHuRefview500
14NT_026437.11171668119786681plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_026437
dbSNP Blast Analysis
GenBank HTGS Finished:
AL356019.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss13998298HapMap-CEUEuropean 120IG 0.067 0.150 0.783 0.005 0.142 0.858
HapMap-HCBAsian 90IG 0.422 0.578 0.100 0.211 0.789
HapMap-JPTAsian 90IG 0.200 0.467 0.333 0.655 0.433 0.567
HapMap-YRISub-Saharan African 120IG 0.183 0.533 0.283 0.584 0.450 0.550
CHMJAsian 74IG 0.405 0.595
ss24226586AFD_EUR_PANELEuropean 48IG 0.500 0.500 0.150 0.250 0.750
AFD_AFR_PANELAfrican American 46IG 0.304 0.435 0.261 0.584 0.522 0.478
AFD_CHN_PANELAsian 48IG 0.208 0.583 0.208 0.439 0.500 0.500
ss66244076HapMap-CEUEuropean 118GF 0.068 0.153 0.780 0.144 0.856
HapMap-HCBAsian 90GF 0.422 0.578 0.211 0.789
HapMap-JPTAsian 90GF 0.200 0.467 0.333 0.433 0.567
HapMap-YRISub-Saharan African 120GF 0.183 0.533 0.283 0.450 0.550
ss69149807HapMap-CEUEuropean 120GF 0.067 0.150 0.783 0.142 0.858
HapMap-HCBAsian 90GF 0.422 0.578 0.211 0.789
HapMap-JPTAsian 90GF 0.200 0.467 0.333 0.433 0.567
HapMap-YRISub-Saharan African 120GF 0.183 0.533 0.283 0.450 0.550

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.435+/-0.1683322602700

  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 .