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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8107772          
refSNP ID: rs8107772
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_020933.2:c.-92-4292T>C
NT_011295.10:g.525111T>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 ss12463477 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8107772 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
ss12463477WI_SSAHASNP|chr19.NT_011295.10_525111byFreqfwd/BC/Tcctcaccaatgtattgtggttttgatgttattccttaatgactgatgttgttaatcatct07/04/0310/25/06116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8107772|allelePos=219|totalLen=2213|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=116
 AAAGATTGTT ATAACCCTGG TAATGTTTAA AAGTGGTAAT ATTGATTATT GATCTGAGTC
 AGATGTTAAA GTAGCAGCGT CACGGTTCTT ACATCAGTGC TGTCATGAGA GTCGCGGTGG
 AAGCCAGAGA GAGGAGGCAT GTTCATACAA AGCAAATTAA ATCCCCTCCC GAGGTGTGGG
 CCACCATACC TCACCAATGT attgtggttt tgatgtta
 Y
 ttccttaatg actgatgttg ttaatcatct tttcatgtgt ttacagttca tttctgtaaa
 tttggagaaa tgtctgttct gttcaagtct cctgcccact tttttactgg gttgtctttg
 ttgttgagtt tataatgata ttaaatccct atcacataca tgatttgcaa atattttcca
 ccattctgtg tctcattcac tttcttgata atgtccttga tgttaattct aaatgtttgg
 tagggttcac cagtgaagcc ccttggtcct ggactttttt tttttttttt tgagacggag
 tcttgctctg tcgcccaggc tggagtgcag tggcgcaatc tcggctcact gcaagctccg
 cctcccaggt tcacaccatt ctcctgcctc agcctcccga gtagctggga ctacaggcac
 tcatcaccac gcctggctaa ttttttgtat ttttagtaga gatggggttt taccgtgtta
 gccaggatgg tctcgatctc ctgacctcct gatccacccg cctcggcctc ccaaaatgct
 gggattacag gcgtgagcca ccgtgcccag ctggtcctgg actttttatt taatggcttt
 tgatgactgc ctcagtctct tgttataggt ctctcaattt tctttttctt ctagagcctg
 tttgggtatg tttcaaggaa tttgatacat ctagagcatt gatccccaag ccctgggcca
 cagacaggta ccggtccctg gccttttagg aacaaggccc tgccgcagga ggtgagcgga
 gggcaagtga gtgaagcttc atctgtattt acagcggctc cccatcactc acattacccc
 tgaactccac ctcctgtcag atcatcagca gcattagatt ctcatagggg cgcagaccct
 attgtgcact gcacatgcaa gggatctaga ttgcacactc cttatgaaaa tctaatgcct
 gatgatctgt cagtgtctcc catcacctcc agatgggacc atctagtttc aggaaaacac
 tctcagggct tccactaatt ctatattatg gtgagttgta taattatttt accatatatt
 acaatgtaat aataatagaa ataaagtgca caataaatgt aatgcactca agtcatccca
 aaaccatccc ccctcacctc accatccatg gaaaaattgt cttccatgac accagtctct
 gatgccaaat tgggtgggga ctgctagtgt agatgatcta atgtgttggt gcataattgt
 tcatggcatt ctcttacagc cctttgaatt tccgtaaggt cggtagtaat gtcccacttc
 cactgatgat tttagttact tgcatctttt tttgttagta attctagctg tagttttgtc
 acctttgttg atctttttga aagaaccaac ttttgttttc attaattctc ctattctcta
 tttcatttgt ctctgcttta atctttattt cttcactttt GCTTTCCCTA GGTTTAGTGT
 GTCAAGGTAG TTGTTtttgt ttgtttgttt gtttgtttgt ttgtttgaga ctgagtctcg
 ctctctcacc caggctagag tgtgatggca cgatctcagc ttacctcaac ctccgcctcc
 cgggttcaag cgattctcct gcctcagcct cccgagtagc tgggattaca ggcatgcacc
 accatgccca gctaattctt tgtattttta gtagagacgg ggtttctcca tgttggtcag
 gctggtctcg aactctcgac ctcaggtgat ccacccacct tggtctccca aagtgctggg
 attacaggtg ggagccactg cacctggctG GAACTGGTTT TTGTATGAGA TGTCTTACTG
 GTGGCTTTTC CTAGGCAAAG GGAATAAGAT CTCGAGTTCC TACTGGAACC TAAGTGTTAG
 AGATGGGGAT TCAGGTTAAA TGAGTGGATG TGATTACCTG GGCAAAGCAT GAGGCATGCG
 AAGGAATGGG TAAA

  GeneView back to top
GeneView via analysis of contig annotation: ZNF317 zinc finger protein 317
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_011295->NM_020933
svfunction
HuRefNW_001838483->NM_020933
svfunction
CeleraNW_927195->NM_020933
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011295->NM_020933->NP_065984525111forwardintron
HuRefNW_001838483->NM_020933->NP_0659845431558reverseintron
CeleraNW_927195->NM_020933->NP_065984373998forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8107772 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
19NW_001838483.254315588843963minusAalt_assembly_8HuRefHuRefview218
19NT_011295.105251119123309plusTref_assemblyreferencereferenceview218
19NW_927195.13739989157752plusTalt_assembly_1CeleraCeleraview218

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011295
dbSNP Blast Analysis
GenBank HTGS Finished:
AC011464.5 NC_000019.8

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss12463477HapMap-CEUEuropean 116IG 0.155 0.845 0.527 0.078 0.922
HapMap-HCBAsian 90IG 0.133 0.867 0.655 0.067 0.933
HapMap-JPTAsian 90IG 0.067 0.933 0.033 0.967
HapMap-YRISub-Saharan African 120IG 0.050 0.250 0.700 0.317 0.175 0.825

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.170+/-0.23727021000

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

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Revised: May 25, 2006 1:38 PM .