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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4785594          
refSNP ID: rs4785594
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_152287.2:c.945-1194G>C
NT_010542.15:g.1359133G>C
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 ss12372079 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4785594 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
ss6603546WI_SSAHASNP|NT_010542.11_605253fwd/TC/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat02/12/0310/10/03111Genomicunknown
ss12372079WI_SSAHASNP|chr16.NT_010542.13_1355831byFreqfwd/TC/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat07/04/0310/25/06116Genomicunknown
ss14262328BCM_SSAHASNP|chr16.NT_010542.14_1355986fwd/TC/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat11/05/0311/22/03119Genomicunknown
ss21358598SSAHASNP|WGSA-200403-chr16.chr16.NT_010542.14_1355986fwd/TC/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat03/19/0403/19/04121Genomicunknown
ss69355399PERLEGEN|PGP07240405byFreqfwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat01/30/0703/31/08127Genomicunknown
ss78524065HGSV|Cor12878_SNV_20070510.chr16_88326017fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat10/17/0710/19/07129Genomicunknown
ss80315890HGSV|Cor18507_SNV_20070510.chr16_88326017fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat11/23/0711/25/07130Genomicunknown
ss83957875HGSV|Cor18956_SNV_20070510.chr16_88326017fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat11/30/0712/06/07130Genomicunknown
ss90499782BCMHGSC_JDW|JWB-0988367fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat02/26/0802/29/08129Genomicunknown
ss1095767931000GENOMES|CEU.trio.12.15.2008_3352918_chr16_88326017fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat12/15/0812/16/08130Genomicunknown
ss1131685131000GENOMES|NA19240_2008_12_16_3012223_chr16_88326017fwd/C/Gatcgtggtgaagaagttcctttctgttcttagatatttccttaactattcttacctggat12/18/0812/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4785594|allelePos=990|totalLen=1318|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 ACTCACAAAC AAGGGGCCAC CCAATCCAGG CAGGCAGGGC AGGTGAGGGG GACATGTGGC
 TAGGTCATGA AAACCAGTTA TTAGGGACAG GGAGAGAAGG CGCAGCCTGT GCGAAGTCAA
 CAGTTCTTCT CAGTGCGttt ttgtcttgtt tctgagatgg agtcttgctc tgttgcccag
 actggagtgc agtggcacga tcttggctca ctgcaacctc cgcctcccga gttcaagtga
 ttctcctgcc tcagcctcct gagtagctgg gattacaggc atgtgccacc atacctggct
 aatttttgta tttttagtag agatgggatt tctcccacgt tggccacact ggtctcgaac
 tcctgacctc atgatccgcc cgcctcagcc tgccaaagtg ctgggattac aggcgtgagc
 caccgcgccg gccTCAATGC ACTCTTTAAA GAGAAGGGCA GTTAGCgaca gggtctcatg
 ttgttgccta ggctggggtg ccctggcacg atcatggctg actgcagccc tgtgcgctca
 agtgagcctc tcacctcagc ctcccagggt gctgggactg ccaacatgag ccactggact
 cggcAGTGTA AACTACTTTT TTCATGCTAT TGCATATGTa ttgttcattg ataatatata
 gaaacataac tgggttttgt gtatggattt tgtgccctgc aactttgctg aaataattaa
 ttagggtttt ttgtatgtgg atctttaggg ttttctacgt agaaggtcgt gtcatttgtg
 aatagggaga atttgtcttt gttttctttt tcttgcccag ttactctggc tagggcctcc
 agtgctgccc tgagagcagt ggtgagagaa tccgtatctt gttcctgacc ttggaggaag
 agctttcagt ccttcacagt tgagcgtggt gtctgctgtg ggtttcatgt agaggtttta
 tcgtggtgaa gaagttcctt tctgtTCTT
 S
 AGATATTTCC TTAACTATTC TTACCTGGAT CCAGAAAGGA ACCACAAGTG CGTCTCTCTC
 TTTAAGTCTC CGATAGACGC ACACTGGAAG CTGCTGCATT TGCTGGTCCC TCAGGGACTT
 GCCAGACCAA CTAAAATgca cgaccccaga cttttggagg acaaggtctc ctgcccacca
 tggtcccagc cagcagctcc aggaacacag gctgggctcc ctgcagtgga ggcggggttg
 aggaatgctg gggtggcagc tactCACCGT GTGCTTCCCA GGGAGCATCA CCTGTTCCTC
 TGAAGCCCTG CCTGGGTGGC TTGAGCTT

  GeneView back to top
GeneView via analysis of contig annotation: ZNF276 zinc finger protein 276
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_010542->NM_152287
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010542->NM_152287->NP_6895001359133forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4785594 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_926561.1143075674862766plusCalt_assembly_1CeleraCeleraview989
16NW_001838336.237285075493732minusGalt_assembly_8HuRefHuRefview989
16NT_010542.15135913388326017plusGref_assemblyreferencereferenceview989

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010542
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss12372079HapMap-CEUEuropean 120IG 0.483 0.450 0.067 0.527 0.708 0.292
HapMap-HCBAsian 90IG 0.533 0.467 0.050 0.767 0.233
HapMap-JPTAsian 82IG 0.805 0.195 0.527 0.902 0.098
HapMap-YRISub-Saharan African 116IG 0.672 0.328 0.150 0.836 0.164
ss69355399HapMap-CEUEuropean 120GF 0.483 0.450 0.067 0.708 0.292
HapMap-HCBAsian 90GF 0.533 0.467 0.767 0.233
HapMap-JPTAsian 90GF 0.756 0.244 0.878 0.122
HapMap-YRISub-Saharan African 120GF 0.650 0.333 0.017 0.817 0.183

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.329+/-0.2372702102700

  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, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .