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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs885107          
refSNP ID: rs885107
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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
NT_010393.15:g.21985798T>C
XM_001717825.1:c.705+65T>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 ss1312595 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs885107 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
ss1312595TSC-CSHL|TSC0029692byFreqfwd/BC/Tctgcttgtaaaagggactgcagcataaaggcttctgcgtgcagcagacagccttcccttg09/06/0004/07/0486Genomic95 %
ss12377026WI_SSAHASNP|chr16.NT_024812.10_2072386fwd/BC/Tctgcttgtaaaagggactgcagcataaaggcttctgcgtgcagcagacagccttcccttg07/04/0310/10/03116Genomicunknown
ss43921244ABI|hCV7473855byFreqrev/TA/Gcaagggaaggctgtctgctgcacgcagaagcctttatgctgcagtcccttttacaagcag07/18/0511/03/06126Genomicunknown
ss65724246ILLUMINA|Human1-rs885107fwd/BC/Tctgcttgtaaaagggactgcagcataaaggcttctgcgtgcagcagacagccttcccttg10/10/0610/10/06127Genomicunknown
ss74857165ILLUMINA|ILMN_Human_1M_rs885107fwd/BC/Tctgcttgtaaaagggactgcagcataaaggcttctgcgtgcagcagacagccttcccttg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs885107|allelePos=266|totalLen=623|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGCCTCAGCA GCCGCCTCCC TCACCTCTGG ACTCTGGTCT TCCTCAGGCG TCCTCCCGTC
 ACTCTCTGGA AGCTGGATAC ATAGTAAGTG CTATCCACCT GTCCTGGCCC CTCCCTGCTC
 CACCCTGGGC CTCTTCCCTC TCGTGACACC TCTGTCTTTC CTTCTCCCCA GTGTGACGCG
 GAAAGTGATC TGGACGAGAG GGTGAGTGGG GCTAGAGCTT GGGTGGGCAG TGTCACTGCT
 TGTAAAAGGG ACTGCAGCAT AAAGG
 Y
 CTTCTGCGTG CAGCAGACAG CCTTCCCTTG AGTGAGAAAC ATGGCTTAGG TTGAGTCAGG
 ATTAGGTTTT TGGGAGGAAC GGGGGTGGAT TGGGAGGGTA AATGGCGTCA TTTTTTCTTT
 TGGTGACTAG GGGTTAGCTG ACCCAGGAAT GGAGGGTCCA TGCTTTGGCA TACTATCCCT
 TCCAAAGCCC TTGAGCTACT TCTGGTTCTC CACGGAACCC CAGAGTGGCT GTGGCACTGA
 GATGGGCCCT CTTCCCATCT TAGAATGAAG ACCTAGATCA AGTCTGAGCC GAGACCCGCA
 GATAGAGTTG TGAGGACACT AAATCATTGT AGTCAGTGTA GGGACTAAGC CCTAAAG

  GeneView back to top
GeneView via analysis of contig annotation: LOC100129899 hypothetical protein LOC100129899
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_010393->XM_001717825
function
HuRefNW_001838236->XM_001714827
function
CeleraNW_926306->XM_001715004
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010393->XM_001717825->XP_00171787721985798forwardintron
HuRefNW_001838236->XM_001714827->XP_001714879354087forwardintron
CeleraNW_926306->XM_001715004->XP_0017150561279465reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs885107 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_001838236.135408728235885plusTalt_assembly_8HuRefHuRefview265
16NW_926306.1127946529626095minusAalt_assembly_1CeleraCeleraview265
16NT_010393.152198579830580220plusTref_assemblyreferencereferenceview265

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024812
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1312595CEPH 184AF 0.210 0.790
HapMap-CEUEuropean 120IG 0.033 0.417 0.550 0.294 0.242 0.758
HapMap-HCBAsian 90IG 0.111 0.889 0.752 0.056 0.944
HapMap-JPTAsian 88IG 0.023 0.136 0.841 0.251 0.091 0.909
HapMap-YRISub-Saharan African 120IG 1.000 1.000
ss43921244AoD_African_American 90AF 0.800 0.200
AoD_Caucasian 92AF 0.340 0.660
AoD_Chinese 90AF 0.070 0.930
AoD_Japanese 90AF 0.070 0.930

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.475+/-0.11027021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .