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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs13177884          
refSNP ID: rs13177884
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
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
NM_031900.1:c.363-1008G>A
NT_006576.15:g.35010935C>T
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 ss42572806 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13177884 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
ss22317126SSAHASNP|WGSA-200403-chr5.chr5.NT_006576.14_17490284fwd/BC/Taccagattatacagatttctttactacagaattttagtacctataatagactagtgtacg03/21/0403/21/04121Genomicunknown
ss42572806ABI|hCV3206790byFreqfwd/BC/Taccagattatacagatttctttactacagaattttagtacctataatagactagtgtacg07/18/0511/03/06126Genomicunknown
ss93058484BCMHGSC_JDW|JWB-1962565fwd/BC/Taccagattatacagatttctttactacagaattttagtacctataatagactagtgtacg02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13177884|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 GTGTGGATGA ATATTTTGTA ACTATAAAGC CACATTCTTT GAAAGATTGG GCCAACCTTA
 CAGGATTAGA AGGTTCATAC TGAGAGATAA TAGGGGCTAA GGATGACAGA TTTGTGGAAC
 CTGACTTGGC TTTGAAAACA CAAACCAAGT TGTCTGAACT TGCTGTAAAG GACATTAATT
 GCTACAGTTT GTTACAGGCC AATTTTATTT GCTGTTAATA TCTTTCACAT CAGAAAAAAA
 TCAATTTAGT GGGTAAATAT TTTGAGAAAT ACCAGATTAT ACAGATTTCT TTACTACAGA
 Y
 ATTTTAGTAC CTATAATAGA CTAGTGTACG CTGTTTCTCT TCAGAAGGGA GATATAGTTT
 AAAGTGTTTC CCAAACTTAT TTTCTCATGG GACCCTTTTC CACGGAAACT CCTGTGATCA
 GTGTTCCATG AAACTCACTT TAGAAAATTG TGGAGTATCA GTAAATCCTT GAAAAGAAGA
 GACATTTGAC AAAAACATTG TTTAGCAAAA TATATGAGAG TCACAGGAGG GGTAGAAAAG
 ATGGCCTCCC ATTTCCAGGG AAGACTGTCA ATGTTACTGG GAAGATTCAG TGAGAATGTT

  GeneView back to top
GeneView via analysis of contig annotation: AGXT2 alanine-glyoxylate aminotransferase 2
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_006576->NM_031900
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006576->NM_031900->NP_11410635010935reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs13177884 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_922596.163087134920357plusCalt_assembly_1CeleraCeleraview300
5NW_001838932.267036534986925minusAalt_assembly_8HuRefHuRefview300
5NT_006576.153501093535073935plusCref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006576
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
ss42572806HapMap-CEUEuropean 112IG 0.482 0.357 0.161 0.150 0.661 0.339
HapMap-HCBAsian 84IG 0.786 0.214 0.439 0.893 0.107
HapMap-JPTAsian 86IG 0.744 0.256 0.872 0.128
HapMap-YRISub-Saharan African 116IG 0.879 0.121 0.655 0.940 0.060

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.273+/-0.24927021000

  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 .