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: rs56379106          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_000662.4:c.190C>T
NP_000653.3:p.Arg64Trp
NT_030737.9:g.5924674C>T
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 ss105439097 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs56379106 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
ss75246482ILLUMINA|ILMN_Human_1M_SNP6fwd/BC/Tgccatttttgatcaagttgtgagaagaaatggggtggatggtgtctccaggtcaatcatc08/28/0708/29/07129Genomicunknown
ss105434751AFFY_DM3_1|DMET3B14970fwd/BC/Tgccatttttgatcaagttgtgagaagaaatggggtggatggtgtctccaggtcaatcatc09/03/0809/03/08130Genomicunknown
ss105439097SNP500CANCER|NAT1-19fwd/BC/Tgccatttttgatcaagttgtgagaagaaatggggtggatggtgtctccaggtcaatcatc09/05/0809/05/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs56379106|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 ATAACCATTG TATTTTTACA TGTTTAAAAT ATAGCCATAA TTAGCCTACT CAAATCCAAG
 TGTAAAAGTA AWATGWTTTG CTTTCGTTTT GTTTTCCTTG CTTAGGGGAT CATGGACATT
 GAAGCATATC TKGAAAGAAT TGGCTATAAG AAGTCTAGGA ACAAATTGGA CTTGGAAACA
 TTAACTGACA TTCTTCAACA CCAGATCYGA GCTGTTCCCT TTGAGAACCT TAACATCCAT
 TGTGGGGATG CCATGGACTT AGGCTTAGAG GCCATTTTTG ATCAAGTTGT GAGAAGAAAT
 Y
 GGGGTGGATG GTGTCTCCAG GTCAATCATC TTCTGTACTG GGCTCTGACC ACTATTGGTT
 TTGAGACCAC GATGTTGGGA GGGTATGTTT ACAGCACTCC AGCCAAAAAA TACAGCACTG
 GCATGATTCA CCTTCTCCTG CAGGTGACCA TTGATGGCAN NAACTACATT GTYGATGCTG
 GGTTTGGACG CTCATACCAG ATGTGGCAGC CYCTGGAGTT AATTTCTGGG AAGGATCAGC
 CTCMGGTGCC TTGTRTCTTC CGTTTGACRG AAGAGAATGG ATTCTGGTAT CTAGACCAAA

  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
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source C/C
C/T
HWP C
T
ss105439097 P2 420 GF 0.990 0.010 0.995 0.005
CAUC2 120 GF 0.967 0.033 0.983 0.017
AFR2 120 GF 1.000 1.000
P3 554 GF 0.996 0.004 0.998 0.002
CAUC3 130 GF 0.985 0.015 0.992 0.008
AFR3 150 GF 1.000 1.000
HISP3 98 GF 1.000 1.000
PAC3 176 GF 1.000 1.000
ASI2 180 GF 1.000 1.000

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.006+/-0.055 0 0 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 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 .