Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs739320          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NG_007510.1:g.2280A>G
NM_019113.2:c.521T>C
NM_019113.2:c.522C>T
NP_061986.1:p.Leu174Pro
NT_011109.15:g.21529558T>C
Links

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 ss87142 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs739320 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
ss87142TSC-CSHL|TSC0100143fwd/TA/Gtggggggccaggattccgggtggctccggggtgcggggggcaggcctggtagtggcagga09/06/0010/10/0386Genomic95 %
ss1267568KWOK|OVLP-000804-544907fwd/TA/Gtggggggccaggattccgggtggctccggggtgcggggggcaggcctggtagtggcagga09/02/0010/10/0398Genomic95 %
ss1855672KWOK|OVLP-000925-406733fwd/TA/Gtggggggccaggattccgggtggctccggggtgcggggggcaggcctggtagtggcagga10/06/0010/10/0398Genomic93 %
ss3576746SC_JCM|AC009002.5_9817fwd/TA/Gtggggggccaggattccgggtggctccggggtgcggggggcaggcctggtagtggcagga09/24/0110/10/03100Genomicunknown
ss5459005TSC-CSHL|TSC0158780fwd/TA/Gtggggggccaggattccgggtggctccggggtgcggggggcaggcctggtagtggcagga09/21/0210/10/03108Genomicunknown
ss11334122SC_JCM|chr19.NT_011109.15_21529558rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca07/03/0310/10/03123Genomicunknown
ss14693232BCM_SSAHASNP|chr19.NT_011109.15_21529558rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca11/10/0311/22/03123Genomicunknown
ss16798899CSHL-HAPMAP|CSHL-HuAA-200402.chr19.NT_011109.15_21529558rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca02/17/0403/04/04123Genomicunknown
ss28510868MGC_GENOME_DIFF|BC018404x29800594-T21529558Crev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca08/25/0408/25/04126cDNAunknown
ss40981367ABI|hCV8876984rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca07/17/0507/17/05126Genomicunknown
ss65624362EGP_SNPS|FGF21-003860byFreqrev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca07/13/0612/16/06127Genomicunknown
ss76860890CGM_KYOTO|721838rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca09/12/0709/12/07129cDNAunknown
ss78557615HGSV|Cor12878_SNV_20070510.chr19_53953180rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca10/17/0710/20/07129Genomicunknown
ss80367314HGSV|Cor18507_SNV_20070510.chr19_53953180rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca11/23/0711/25/07130Genomicunknown
ss106058256BGI|BGI_rs739320rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca09/13/0806/17/09130Genomicunknown
ss117725556ILLUMINA-UK|NA18507_000055156_NCBI36.1_chr19_53953180rev/BC/Ttcctgccactaccaggcctgccccccgcaccccggagccacccggaatcctggcccccca01/19/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs739320|allelePos=259|totalLen=859|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTGCCATGTC TTCCCTCATA CACTCACACA TGCTCATTCT TATCCTCCTC TGGAACTCTT
 TATTATCTCA AGTAAGAAaa ataaaaaaat aaataagata aataacctaa taaataaaGA
 GGAGATGTCA TAGTAAACAG CCTCTGGCTT CAGGAAGCGT AGCTGGGGCT TCGGCCCTGG
 GAAGGTCCCA CCATGCTCAG AGGGTCCGAG GAGCCCACAT CGGGGGGCTG GGGGGCCAGG
 ATTCCGGGTG GCTCCGGG
 R
 GTGCGGGGGG CAGGCCTGGT AGTGGCAGGA AGCGAGCTGG TCCTCGGGGT GCAGGGTCCC
 GGTGTGGGGA CTTGTTCCCT GGCAGGTGCA GCGGGAGGCC GTGGGCTTCG GACTGGTAAA
 CATTGTATCC GTCCTCAAGA AGCAGCTCCC GGAAGCTGCA GGCCTCAGGG TCAAAGTGGA
 GCTAGGGGAC AAAAACAGGA TCAGAGACAG GGTTCCTCTG TTTTCCTGAT GTAagaccca
 ggatccaggc cccagccctg cctccctcag acccaggggt ccaggccccc agcgcctcct
 ccctcagacc caggggtcca gaccctagtt tctcctccat ccgacccagg agtccaggcc
 cccagcgcct tctccctcag acccggggtt ccaggcccca gcctctcctt cctcagaccc
 gggtccaggc cccagcctct tcttcctcag acccggggtt tcaggcccca accccttctc
 cctcagaccc aggggttcag gcccccaacc cctccttcct aaaacccagg agtcaggccc
 ccacccttcc tTTAGAAACA AACACAAGGC AGGTTTGTTT TTACCCAGGG CTTTCTGCAG

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_011109.15 AC009002.4 AC024740 AC024740.3 BC018404
dbSNP Blast Analysis
UniGene Cluster ID
283015

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss65624362 EGP_YORUB-PANEL Sub-Saharan African 24 IG 1.000 1.000
EGP_HISP-PANEL Hispanic 44 IG 0.227 0.773 0.584 0.114 0.886
EGP_CEPH-PANEL European 44 IG 0.364 0.455 0.182 1.000 0.591 0.409
EGP_AD-PANEL African American 30 IG 0.200 0.800 0.752 0.100 0.900
EGP_ASIAN-PANEL Asian 48 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.294+/-0.246 95 95 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreq UNKNOWN UNKNOWN YES

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 .