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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10927058          
refSNP ID: rs10927058
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_005465.3:c.173-10445A>G
NM_181690.1:c.173-10445A>G
NT_004836.17:g.8596419T>C
Links

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 ss16390169 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10927058 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
ss16390169CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004836.15_8501994fwd/BC/Tcacgccattctcctgcctcagcctcctgagaactgggattacaggcgcatactaccacgc02/17/0403/04/04120Genomicunknown
ss18247296SC_SNP|SC-CHR1_NA07340-200402.chr1.NT_004836.15_8501994fwd/BC/Tcacgccattctcctgcctcagcctcctgagaactgggattacaggcgcatactaccacgc02/20/0403/04/04120Genomicunknown
ss20485367SSAHASNP|WGSA-200403-chr1.chr1.NT_004836.15_8501994fwd/BC/Tcacgccattctcctgcctcagcctcctgagaactgggattacaggcgcatactaccacgc03/18/0403/18/04121Genomicunknown
ss41236338ABI|hCV31523657fwd/BC/Tcacgccattctcctgcctcagcctcctgagaactgggattacaggcgcatactaccacgc07/16/0507/17/05126Genomicunknown
ss88040516BCMHGSC_JDW|JWB-0213580fwd/BC/Tcacgccattctcctgcctcagcctcctgagaactgggattacaggcgcatactaccacgc02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10927058|allelePos=501|totalLen=872|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 TTTAAAAAAa ttttcaattc atgaagtaga tgtgcaggtt tgttacatgg gtgtattgta
 taaagctgag atatgggctt ctagtgaact catcacccaa ataatgaaca tagtactcaa
 taggtagttt tctggtcctt gtcccaccct tctccttttt ggagtccgca gtgtctatta
 tttccatctt tatgtccata tgtaccaatt gcataggtcc cacttagaag taaCTTACAA
 CTTAAATGCC TCGAGATTTC CATCTGTACC AATGAGACAA TTTCTACTCA CGTATCTTCA
 AAGTAGCTTA TCAGTGCATA CATACCACAG TGAAATAAAC AATAAACATA TACAAAGACC
 AAGATGCAGA TTCAAAGTCA Cttttttttt gagatggagc cttgctttgt catccatgat
 ggagtgcagt ggcacaatct cggctcactg caacctctgc ctcctgggct cacgccattc
 tcctgcctca gcctcctgag
 Y
 aactgggatt acaggcgcat actaccacgc ccagctaatt ttttgtattt ttagtagaga
 cggggtttca ccatgttagc caggctggtc tcaaactcct gacctcaggt gatcagcccg
 cctccacttc ccaaagtgct aggattacag gcgtgagcca ctacatccag ccTCAAAGTC
 ACTCTTTAAA GCACTTGTAT TAAATGCTGC TCCTCTTCCC GCTAACTGCC CCATTCCTCT
 CCTTCGTTTT GCTGGTAAAT CACTCAAAAT AATCTACAAG GCTGGCCTTT GTTACCCATG
 CCTTAACCAA TTAGCTAAAT TCTGGTTTCC ACCACTCTAC TGCAGTCTCC TTTTTATCAG
 ATATATTTTC C

  GeneView back to top
GeneView via analysis of contig annotation: AKT3 v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
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_004836->NM_005465
svfunction
referenceNT_004836->NM_181690
svfunction
HuRefNW_001838553->NM_005465
svfunction
HuRefNW_001838553->NM_181690
svfunction
CeleraNW_927572->NM_005465
svfunction
CeleraNW_927572->NM_181690
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_004836->NM_005465->NP_0054568596419reverseintron
referenceNT_004836->NM_181690->NP_8590298596419reverseintron
HuRefNW_001838553->NM_005465->NP_0054562975245forwardintron
HuRefNW_001838553->NM_181690->NP_8590292975245forwardintron
CeleraNW_927572->NM_005465->NP_005456483098reverseintron
CeleraNW_927572->NM_181690->NP_859029483098reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10927058 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
1NW_001838553.22975245214217999minusGalt_assembly_8HuRefHuRefview500
1NW_927572.1483098217125984plusTalt_assembly_1CeleraCeleraview500
1NT_004836.178596419241905253plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004836
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL662889.5 NC_000001.9 AC023843.2

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .