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: rs7439366          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_001074.2:c.802T>C
NP_001065.2:p.Tyr268His
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 ss48411172 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7439366 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
ss11237052SC_JCM|chr4.NT_077444.2_623486byFreqfwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg07/03/0310/25/06116Genomicunknown
ss20219853CSHL-HAPMAP|CSHL-HuFF-200402.chr4.NT_077444.2_623486fwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg02/21/0403/04/04120Genomicunknown
ss48411172APPLERA_GI|hCV26032685byFreqfwd/BC/Tattcgaaactcctggaattttcagtttcctatccactcttaccaaatgttgattttgttg09/28/0503/31/08126Genomicunknown
ss69369041PHARMGKB_PAAR-UCHI|PS203401_PA128522756_573byFreqfwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg03/22/0703/31/08127cDNAunknown
ss69369816PHARMGKB_PAAR-UCHI|PS203576_PA131861848_2100byFreqfwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg03/22/0703/31/08127Genomicunknown
ss69369824PHARMGKB_PAAR-UCHI|PS203576_PA131862147_2100byFreqfwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg03/22/0703/31/08127Genomicunknown
ss79314267CCHMC-CAE-PGCORE|UGT2B7_2100T>Cfwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg11/20/0711/20/07130Genomicunknown
ss84149970PHARMGKB_PNAT|PS206610_PA151700369_424fwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg12/06/0712/10/07130Genomicunknown
ss105835381BGI|BGI_rs7439366fwd/BC/Tattcgaaactcctggaattttcagtttcctatccactcttaccaaatgttgattttgttg09/12/0806/17/09130Genomicunknown
ss1080204881000GENOMES|CEU.trio.12.15.2008_1004263_chr4_69998927fwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg12/15/0812/15/08130Genomicunknown
ss117033987ILLUMINA-UK|NA18507_000098795_NCBI36.1_chr4_69998927fwd/BC/Tattcgaaactcctggaattttcagtttccaatccactcttaccaaatgttgattttgttg01/18/0901/18/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7439366|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CCTCACAATT CTCCTACTAC TTTGTCTTTC TTATAAATAC ACATGGGCAA AATATGTAAT
 ACATAAAATT AAATTATATC TATATATGAA TATGTGTATA TATTTTTCAA AGCACAGATA
 TTTGCCTACA TTTTTGCCTA CATTATTCTA ACCCCTTTCA GAAATTTACC TAAAGTAATT
 ATCTTGTGTC ATCCACCTTT TTTTTTTCTA TTCCTGTCAG GAAGACCCAC TACATTATCT
 GAGACAATGG GGAAAGCTGA CGTATGGCTT ATTCGAAACT CCTGGAATTT TCAGTTTCCT
 Y
 ATCCACTCTT ACCAAATGTT GATTTTGTTG GAGGACTCCA CTGCAAACCT GCCAAACCCC
 TGCCTAAGGT AAACATACTT TTGTTGGTTT TATTTTGTTG GCTTTGAATT TTCAGTAGAA
 ATGATTCTAT AGTCTTCTTT CAGAGTGTTT GACTTACACT GAAAGAAAGA TGGGAAATGG
 GTGGGGTAAA GCAGATACCA ATTAGAAACT CATGTGCACG TTAATACCAT CACACGTATA
 TGAGTTTTAT GAGTATTACA AATAGAGAGG AATACTAAGG AGACTTTGAA AATAGGGTTG

  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_077444
dbSNP Blast Analysis
UniGene Cluster ID
10319

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss48411172 HapMap-CEU European 120 IG 0.217 0.567 0.217 0.500 0.500
HapMap-HCB Asian 90 IG 0.467 0.511 0.022 0.722 0.278
HapMap-JPT Asian 88 IG 0.409 0.545 0.045 0.682 0.318
HapMap-YRI Sub-Saharan African 120 IG 0.983 0.017 0.992 0.008
ss69369041 PA128522757 188 AF 0.548 0.452
ss69369816 PA131861850 34 AF 0.618 0.382
ss69369824 PA131862149 34 AF 0.618 0.382
ss84149970 PA151700370 472 AF 0.462 0.538

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict		 Additional Freq. Data
0.397+/-0.202 525 409 0 0 ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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 .