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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28371597          
refSNP ID: rs28371597
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:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_000574.2:c.286+984G>T
NT_021877.18:g.1014675G>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 ss82679133 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28371597 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
ss32475803PGA-UW-FHCRC|DAF-004553byFreqfwd/BG/Ttattggcattatcttggaggaaaaaaatctttacttacatagccctgtattagctttgag12/23/0411/02/06125Genomicunknown
ss52086497PGA-UW-FHCRC|DAF_004553byFreqfwd/BG/Ttattggcattatcttggaggaaaaaaatctttacttacatagccctgtattagctttgag04/28/0603/31/08127Genomicunknown
ss82679133HGSV|Cor19240_SNV_20070510.chr1_203885291fwd/BG/Ttattggcattatcttggaggaaaaaaatctttacttacatagccctgtattagctttgag11/30/0712/03/07130Genomicunknown
ss87948921BCMHGSC_JDW|JWB-0176838fwd/BG/Ttattggcattatcttggaggaaaaaaatctttacttacatagccctgtattagctttgag02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28371597|allelePos=419|totalLen=619|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 AAATATATGT ATATATATAA ATTGGGATAT ATATATAGGG AGAGAGATAT ATATAATTGG
 GATATATATA TATAAGGAGA TATATAATTG GGATATATAT AAGGAGATAT ATATAGGGAG
 AGATATATAT ATATAGGGAG ATATATATAT ATAGGGAGAG AGATATATAT AGGGAGAGAG
 AGATGTATAA ACTGGGATAT AGACAGGTAG ATAGGTTGAT TGTTAAAAAT GAATAAGAGG
 CCCAGTGAAG AGTTGTTTGG GGGCTAACAC AGTAACCGTG TTTGATACTG ATACCTAGTA
 GAATTAAAAG AAATGAAGAT TTCTTGTTTT AGGTGAATAT ACATACAGTC ATCCACACCT
 TATGTGCCCT TTGATTTCAT AAAATATATA TTGGCATTAT CTTGGAGGAA AAAAATCT
 K
 TTACTTACAT AGCCCTGTAT TAGCTTTGAG ATATATGAGT AGAGATAAAG ATAAAGAGAC
 CCGATAACCT GACTTTGAAC AACTTAAATC AATAGAAGCT ACTGTAAATA CAGAAATTGG
 CACAAATACC TTTAGAAGCC ATGCGTGAAA TAGGCTTTAA CTTTTTATTT TTATCCACAA
 TAGAGGCAGT AGGATGAAGT

  GeneView back to top
GeneView via analysis of contig annotation: CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: LOC100129101 hypothetical protein LOC100129101
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_021877->NM_000574
function
HuRefNW_001838537->XM_001721125
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_021877->NM_000574->NP_0005651014675forwardintron
HuRefNW_001838537->XM_001721125->XP_00172117715735322forward5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28371597 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838537.215735322178193362minusCalt_assembly_8HuRefHuRefview255
1NW_926794.1915244180749484plusGalt_assembly_1CeleraCeleraview255
1NT_021877.181014675205563519plusGref_assemblyreferencereferenceview255

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AY851161
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL596218.4 AL355527.3 AL928884.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss32475803PGA-AFRICAN-PANELAfrican American 48AF 0.667 0.333 0.343 0.833 0.167
PGA-EUROPEAN-PANELEuropean 44AF 0.318 0.591 0.091 0.251 0.614 0.386
ss52086497HSP_GENO_PANEL 120IG 0.667 0.267 0.067 0.200 0.800 0.200
YRI_GENO_PANELSub-Saharan African 120IG 0.683 0.300 0.017 0.584 0.833 0.167
AAM_GENO_PANELAfrican American 124IG 0.645 0.339 0.016 0.343 0.815 0.185
CEU_GENO_PANELEuropean 118IG 0.441 0.508 0.051 0.150 0.695 0.305
CHB_GENO_PANELAsian 90IG 0.911 0.089 1.000 0.956 0.044
JPT_GENO_PANELAsian 86IG 0.814 0.186 0.527 0.907 0.093

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.304+/-0.24437935800

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

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Revised: May 25, 2006 1:38 PM .