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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1055114          
refSNP ID: rs1055114
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:Not available
Clinical Association:unknown
HGVS Names
NM_178815.3:c.*2596T>C
NT_008705.15:g.942066T>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 ss52067677 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1055114 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
ss1533584LEE|606789byFreqfwd/BC/Tattatttcagtgatgaaataatttgtgtttatatcccccttcacctccatgtattggtta09/13/0005/16/0486cDNAunknown
ss4396797LEE|ge606789fwd/BC/Tattatttcagtgatgaaataatttgtgtttatatcccccttcacctccatgtattggtta04/25/0210/10/03106cDNAunknown
ss4422408LEE|e606789fwd/BC/Tattatttcagtgatgaaataatttgtgtttatatcccccttcacctccatgtattggtta04/26/0210/10/03106cDNAunknown
ss52067677SI_EXO|NT_008705.15_942066fwd/BC/Tattatttcagtgatgaaataatttgtgtttatatcccccttcacctccatgtattggtta03/29/0603/29/06127Genomicunknown
ss69359633RSG_JCVI|ARL5B-021407_021408-C_TbyFreqfwd/BC/Tattatttcagtgatgaaataatttgtgtttatatcccccttcacctccatgtattggtta03/21/0708/14/07127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1055114|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127
 TTTGGATTAG AAATGATTTA TGTTAGCCAT GTGTTGAAGA TGAAATTGGC ATCAGTGTAG
 ACGGTGCTGA TTGGGAAAAG TTCATGATTA GGAAATTCAT GTAAGACTTT TTAAGAGTAT
 TTTTTAGGTT TTCACTCAAT CTTTCCTGTC ACAGTAACGT GAAAACTGAT TATTCTTTAC
 TCCAAGAGAA TGTTTTAACC CAAGCAAGTA TCTAATACTA GAGCATTGGT TCTGACATTC
 ATTGTAAATC AGTGAACTGT AAGATACTGT CTAAAAAATG TACATTTGTA ATTAGTGCCT
 TTATTCATAT TTTGAAATAA GTTCTTAGTT TTATATTATA CCTGTTCTTT AGAAGTCATG
 TTAGCAGCTA ATTATTTCAG TGATGAAATA ATTTGTGTTT
 Y
 ATATCCCCCT TCACCTCCAT GTATTGGTTA GCACAGTTTA TAGTAAGTGA AAAGCAAGGG
 ACCCACCTAC ATTACCTTCA GGAGACTGTT CTACCTTTTA ATTTGAAAAC AAGGAAATTA
 AATTTTAACA GAAATCTTTT AAGTATGTTA TAACCAAAGT GTTCAATTAT CCTTGCAAGT
 TCAAATACAG CATTTTTCTT AATTTTGAGC GTGTCATGTC CTTCATCTTT AAACCCATCA
 TTCTTATTGA AGCCCATTTG AGAACTCTTA GAATTAATAG AACCTTTTAT AAGGGAATAT
 ATGGAATATT TTTTATTGTT AATGTAACTT AATTCCTTAA AACCTGGAAT ATTAATATAT
 ATAATCTATT AAAAGCTGAA GATTAAATAT GTAATTTTTG

  GeneView back to top
GeneView via analysis of contig annotation: ARL5B ADP-ribosylation factor-like 5B
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_008705->NM_178815
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_008705->NM_178815->942066forward33903' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1055114 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
10NW_001837931.21215478918627188minusAalt_assembly_8HuRefHuRefview400
10NW_924584.11865225818652258plusTalt_assembly_1CeleraCeleraview400
10NT_008705.1594206619006747plusTref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008705.15 Hs.127221
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:
NM_178815.3 AL512641.9
UniGene Cluster ID
25362

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1533584CEPH 184AF 0.770 0.230
ss69359633R12_ISDP2 40AF 0.075 0.925

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.457+/-0.1400000

  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 .