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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs287778          
refSNP ID: rs287778
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_025184.3:c.2148+4788T>C
NT_079573.3:g.6870147A>G
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 ss8178326 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs287778 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
ss372701KWOK|OVLP-000621-171168fwd/BC/Tgaagaatgggcagagggagaagtcgaactggatggaagcccaaagatatccttggccaac06/30/0010/10/0379Genomic99 %
ss1188509KWOK|OVLP-000804-623962rev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc09/02/0010/10/0386Genomic99 %
ss1188886KWOK|OVLP-000804-625020fwd/BC/Tgaagaatgggcagagggagaagtcgaactggatggaagcccaaagatatccttggccaac09/02/0010/10/0386Genomic99 %
ss1610188KWOK|OVLP-000925-451656rev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc10/04/0010/10/0387Genomic99 %
ss1610574KWOK|OVLP-000925-454921fwd/BC/Tgaagaatgggcagagggagaagtcgaactggatggaagcccaaagatatccttggccaac10/04/0010/10/0387Genomic99 %
ss2617163SC_JCM|AL355575.4_112692fwd/BC/Tgaagaatgggcagagggagaagtcgaactggatggaagcccaaagatatccttggccaac11/03/0010/10/0389Genomicunknown
ss6663119WI_SSAHASNP|NT_011568.10_532420rev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc02/12/0310/10/03111Genomicunknown
ss8178326SC_SNP|NT_011568.10_532420byFreqrev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc04/16/0310/30/04114Genomicunknown
ss8488512SC_SNP|NT_011568.12_6838248rev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc05/23/0310/10/03116Genomicunknown
ss69261419PERLEGEN|PGP13177767byFreqrev/TA/Ggttggccaaggatatctttgggcttccatccagttcgacttctccctctgcccattcttc01/30/0708/14/07127Genomicunknown
ss75160629ILLUMINA|ILMN_Human_1M_rs287778fwd/BC/Tgaagaatgggcagagggagaagtcgaactggatggaagcccaaagatatccttggccaac08/28/0708/29/07129Genomicunknown
ss76425639AFFY|AFFY_6_1M_SNP_A-8286431rev/TA/Gtctttgggcttccatccagttcgacttctccc08/28/0708/30/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs287778|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 CTAGATTCCA AAGAGTTCGA AGCACTCTGG TACTGATAAG CTTGTTATTA TTTCATAAAG
 AAGACATAAA ATACCTTGGG AATGTTACCA GTGAGTCTGT AATCTCATGT GAAAATATTT
 AGCATGAAGG GGTTGAGCAC AATGTTGAAT AGTTTATACA GTAGAATACA GGAGCAAAAA
 GTATAATATC TACTGACCCA TGTAAGTGTG CTCAAATGTT ATTAATAATG TTGAATAATG
 CCCTGAAACA CTGCTGGGTC AGAGTTtgtc acaggtgggg ttctccagga agcagatgga
 gtctaatgtg caggatgttt ttttgggagt gtccttggga tcaactccca tggaaggtgg
 gggaaaaaaa gaagaatggg cagagggaga agtcgaactg
 Y
 gatggaagcc caaagatatc cttggccaac ccatagggag ctctggagtt agcatgtctt
 ttcagcgttg tcctgagttg ggccagaatg gcctggcctt tgtCCTGGTG GGTTGGTTCA
 AGAAGAGATA TGACTTTGTG CAGCGTGGCT CTTTGTAGCC AAGACATGTT TGTAGCTCAG
 GAAATCCAGG AAGGGGACTC CCAGCAGCTG GGCCACCAAA TCCCTCCTCA AGGGGATTCT
 GGGTAGTATA TCACAGCTTG GCAACCAACT ACTCTTGAAG CCCCTGTTGA CTGTTCTTGG
 TATCAACTGA GAGCCTAGCA GTGTGACAGC CTCCTCCCCA GCTTGTTCCT TGGTTATTTC
 CTGATCTTCT ATTCATGGTA GGGAACTGAG AGGAGAGTGG

  GeneView back to top
GeneView via analysis of contig annotation: EFHC2 EF-hand domain (C-terminal) containing 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_079573->NM_025184
svfunction
HuRefNW_001842361->NM_025184
svfunction
CeleraNW_927701->NM_025184
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_079573->NM_025184->NP_0794606870147reverseintron
HuRefNW_001842361->NM_025184->NP_079460966599forwardintron
CeleraNW_927701->NM_025184->NP_0794606873790reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs287778 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842361.296659941747305plusTalt_assembly_8HuRefHuRefview400
XNT_079573.3687014743903324minusAref_assemblyreferencereferenceview400
XNW_927701.1687379048158158minusAalt_assembly_1CeleraCeleraview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011568 AC017073 AL355575.2 AL355575.4 AL359744.5 AL359744.6
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL359744.17 NC_000023.9 AC017073.4 AL355575.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss69261419HapMap-CEUEuropean 60GF 0.267 0.200 0.033 0.489 0.178
HapMap-HCBAsian 46GF 0.422 0.089 0.618 0.059
HapMap-JPTAsian 44GF 0.422 0.067 0.612 0.045
HapMap-YRISub-Saharan African 60GF 0.483 0.017 0.656 0.011
ss8178326HapMap-CEUEuropean 120IG 0.533 0.200 0.267 1.000 0.633 0.367
HapMap-HCBAsian 90IG 0.867 0.089 0.044 1.000 0.911 0.089
HapMap-JPTAsian 88IG 0.841 0.068 0.091 1.000 0.875 0.125
HapMap-YRISub-Saharan African 120IG 0.983 0.017 1.000 0.992 0.008

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.241+/-0.2502702102700

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .