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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28567417          
refSNP ID: rs28567417
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_014678.3:c.-148+13396A>G
NT_011526.6:g.15438A>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 ss35286864 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28567417 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
ss35286864SSAHASNP|TA-079.chr22_49085519fwd/TA/Gagagggagactctgtctcaaaaaaaaaacaaaaagcaaaaacaaaacttccagttttcca03/11/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28567417|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=125
 GTACACACCA CCATGTCCAG CTAATTTTTT TTTGTATTTT TAGTAGAGAC AAGATTTTGC
 CACGTTGGCC AGGCTGGTGA AAATTCTTAC ATTAATACAA GTCTTTTCTG TGGACATATG
 TTATTTCTTT TGAGTAAACA GGAGTAGAAG TGCTGGGTTA TAACATAGAT GTATGTTTCA
 CTTTTTTAAG AAACTGCCAG TTTTCGGCCG GTTGTGGTGG CTCACGCCTG TAATATGCCA
 GCACTTTAAA GGAGGCCGAG GCGGGTGGAT CACAAGGTCG GGAGTTCGAG ACCAGCCTGA
 CCAACATGGT GAAACCCCGT CTCTACAAAA AATAAAAAAA TTAGCCGGCC ATGGTGGCCG
 GCGCCATAAT CCCAGCTACT TGGGAGGCTG AGGCAGGAGA ATTGCTTGAA CCCGGGAGGC
 AGAGGTTGCA GTGAGGCAAG ATCGTGCCAC TGCCCTCCAG CTTGGGCGAC AGAGGGAGAC
 TCTGTCTCAA AAAAAAAACA
 R
 AAAAGCAAAA ACAAAACTTC CAGTTTTCCA AACTGGAAAC ATTTTACACT CCTACTAGTA
 ATGGGTGAGA ATTCCTTTCT CCTTGCCTAT GACAGCACTT AGCCTTTTTA CTTTTAGCCA
 TTCAGGCGGT AGTGGTATCT TACTGTGGTT TTAATTTGAG TTTGTCTGAT GAATTATGAT
 GGTGAGCAAC TTTTCAGGTG CCTTACGGGC CATTCGTGTA TTTTTTTGTG AAATATTAAT
 ATCTATTCAT GCTTTTACCC ACTGTTTATT GGATTGTTCT TTTATTCACT TTTAGGAGTT
 TACAAAAATA AATTCTGGTT ACAAGTCCTT TGTGGTGTGT GCATGCGTAT ATGCATATAC
 ATACATAGTG AGGGGAGGAA GAGGAAGGGG GTGAATTTTT TTTGTTATAC TAGTTGCTTA
 TTTTCTCTTT CTCTTTCATC TCTTTCCCTC CCTCTCTCCA TCCCTCTTCT TTCTTTTCTT
 TTCTTTTTCT TTTTTCTCTC

  GeneView back to top
GeneView via analysis of contig annotation: SAPS2 SAPS domain family, member 2
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_011526->NM_014678
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011526->NM_014678->NP_05549315438forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28567417 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
22NW_001838756.241473533685648minusTalt_assembly_8HuRefHuRefview500
22NW_927650.1785041834670785plusAalt_assembly_1CeleraCeleraview500
22NT_011526.61543849142241plusAref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
GenBank HTGS Finished:
BX545851.6

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .