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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28666671          
refSNP ID: rs28666671
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:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_181704.1:c.250-2689G>A
NT_029490.4:g.354414C>T
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 ss35427770 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28666671 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
ss35427770SSAHASNP|TA-079.chr21_10074181fwd/BC/Tggttgtctgccatgcacctcacataacatgtattcatgtctgtgtgcttttacacattct03/11/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28666671|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=125
 TTAGTATCAT TGTTGACTCT GAACTCAGCT TTGACCCAAC ACATCCAGCC AGATCCCAAT
 TCTTATGTAT TAAACTTCCT ACACATCATT CTTTCTTTAT ATGTTTATAG TTTAGTCTAT
 CATACTAGGT TGGTGCAAAA GTAACTGCAG TTTTTGACAT TACTTTTAAT GGCAAAGACT
 GCAATTACCT TTGCACCTAC CTAATACTCT GTCTCGCTAA CTGCAGTATC TTCTGCATCA
 AATCATCTCT ACTTATGGTT CTGACGTCCT CTCTAAATCA TTTTCTACAC ATCCAGAACA
 ATCTTTCAAA AATGTAAATC TAATTGTTAA CCTCTGTATA AATTAAAACT CCACCAATAC
 CTCATTTTTC ACCCAAAAGA AAATCAGAAT TTTCAAGTAT GAGGCAAAAA GGTCCTTATC
 TCCCTTTCCA ACTGAATCTC AGAACCACTC ACTATTTCGT GGTCATGGTG GGTTGTCTGC
 CATGCACCTC ACATAACATG
 Y
 TATTCATGTC TGTGTGCTTT TACACATTCT GTTCCCTCTG CTTGAAATTT AGTTTTTCTG
 CTGTGCTCCC AGCCTTCAAA ACTCTGCTCA TGGCTGGGCA CAGAGGCTCA CGCCTGTAAT
 CCCAGCACTC TGGGAGGCCA AAGCGGATGG ATCACCTGAG GTCAGGAATT CGAGACCAGC
 CGGGCCAACA TGGTGAAACC CCATCTCTAC TAAAAATACA AAATTAGCAG GGTGTGGTGG
 CACATGCCTG TAGTCCCAGC TACTCAGGAG GCTGAGGCAG GAGAATCGCT TGAACCCAGG
 TGGTGGAGGC TGCAGTGACT AGAGTTTATG CCACGGCACT CCAGCCTGGG GGACAGAGTG
 AGACCCTGTC TCAAAAAAAA AAAAATCTGC ACATTATTTC CTGAATACCT ATTACCACAC
 CCAAATACCC ATTTAGTTGT TGAATATTAC TTTTACCCAT ATGCTTACAA GAAACTTCTG
 TTACATAATC ATTTATTTAC

  GeneView back to top
GeneView via analysis of contig annotation: BAGE4 B melanoma antigen family, member 4
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_029490->NM_181704
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_029490->NM_181704->NP_859055354414reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28666671 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
21NT_029490.435441410074181plusCref_assemblyreferencereferenceview500
7NW_001839088.2535371145776482minusGalt_assembly_8HuRefHuRefview500
7NW_923751.11980042146522553plusCalt_assembly_1CeleraCeleraview500
7NT_079596.251327730151292162plusCalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view500

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AF254983.3 AL158811.12 AL161418.9

  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 .