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: rs28940878          **clinically associated**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:125/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:link to VariationViewerlink to OMIM
HGVS Names
NG_008748.1:g.5207A>G
NM_000372.4:c.125A>G
NP_000363.1:p.Asp42Gly
NT_008984.17:g.1172868A>G
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 ss38342448 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28940878 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
ss38342448OMIMSNP|OMIM_606933_0019fwd/TA/Gagaaggaatgctgtccaccgtggagcggggcaggagtccctgtggccagctttcaggcag05/17/0505/17/05125cDNAunknown
ss86372363RISN-LSDB|RISN_TYR:c.125A>Gfwd/TA/Gagaaggaatgctgtccaccgtggagcggggcaggagtccctgtggccagctttcaggcag02/25/0802/25/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28940878|allelePos=185|totalLen=435|taxid=9606|snpclass=1|alleles='A/G'|mol=cDNA|build=129
 AGAGAAATCT GTGACTCCAA TTAGCCAGTT CCTGCAGACC TTGTGAGGAC TAGAGGAAGA
 ATGCTCCTGG CTGTTTTGTA CTGCCTGCTG TGGAGTTTCC AGACCTCCGC TGGCCATTTC
 CCTAGAGCCT GTGTCTCCTC TAAGAACCTG ATGGAGAAGG AATGCTGTCC ACCGTGGAGC
 GGGG
 R
 CAGGAGTCCC TGTGGCCAGC TTTCAGGCAG AGGTTCCTGT CAGAATATCC TTCTGTCCAA
 TGCACCACTT GGGCCTCAAT TTCCCTTCAC AGGGGTGGAT GACCGGGAGT CGTGGCCTTC
 CGTCTTTTAT AATAGGACCT GCCAGTGCTC TGGCAACTTC ATGGGATTCA ACTGTGGAAA
 CTGCAAGTTT GGCTTTTGGG GACCAAACTG CACAGAGAGA CGACTCTTGG TGAGAAGAAA
 CATCTTCGAT

  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
20072605
dbSNP Blast Analysis
OMIM
606933.0019

  Population Diversity back to top
There is no frequency data.

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