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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs345450          
refSNP ID: rs345450
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_004466.3:c.1280+29737T>C
NT_009952.14:g.5528087T>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 ss439461 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs345450 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
ss439461KWOK|OVLP-000621-348380fwd/TA/Gccatttcgactaaaaatacaaaaattagccggcgtggtggtgggcacctgtaatcccagc06/30/0010/10/0379Genomic99 %
ss612912SC_JCM|AC016459.2_64174fwd/TA/Gccatttcgactaaaaatacaaaaattagccggcgtggtggtgggcacctgtaatcccagc07/12/0010/10/0380Genomicunknown
ss1132118KWOK|OVLP-000804-370456fwd/TA/Gccatttcgactaaaaatacaaaaattagccggcgtggtggtgggcacctgtaatcccagc09/02/0010/10/0392Genomic99 %
ss40317659ABI|hCV26557666rev/BC/Tgctgggattacaggtgcccaccaccacgccggctaatttttgtatttttagtcgaaatgg07/16/0507/16/05126Genomicunknown
ss77367992HGSV|Cor12156_SNV_20070510.chr13_91236412rev/BC/Tgctgggattacaggtgcccaccaccacgccggctaatttttgtatttttagtcgaaatgg10/09/0710/12/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs345450|allelePos=367|totalLen=1367|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GTATATAAAA ACCTTTCAAT AATCAATGAA AACAACCCCT TTTTAAAAAA TAAAAAAATC
 AAATAGGCAC TCTGTCAAAA AGATGTACAG GTAACAAAAA agcaaagtga gtaaggaagg
 gagagcagga gggaagctga tcagagaggt cactggggac caagtaatgc aggacttgtt
 aggccatcca aaggctttca agtttattct gagaaataga aaaactttgg gccaggcgtg
 gtggctcacg cctgtaatcc cagcactttg ggaggctgac gcaggcggat cgcgaggtca
 ggagtttgag accagcgtga ccaacatggt gaaaccccat ttcgactaaa aatacaaaaa
 ttagcc
 R
 ggcgtggtgg tgggcacctg taatcccagc tactcaggag gctgaggcag gagaatcact
 tgaacttggg aggcagaggt tgtggtgagc tgagatcgtg ccactacact ccagcctggg
 tgacagagcg agacttggtc tcaaaaaaaa gaaagaaaaa ctttgaatca ttgtagtaga
 gggtgacaga cctgaggcag atttctgctt tgttagaaac agattaccca gggcaggggg
 aggagcaagg gtggaagtag ggagagcagt tggaattaat ggaatctcag cataagttca
 gaaatcccag agggagatga tagtgtatca catcagggtg aaagatgact gcactttgaa
 tgtatttaga agatctgtgc agatgggctg aatgtggatt aatgtggaat gtggataagg
 tgaaaagtca agattaaaga caagattttg agcctgtgaa actgaaagct ggaattagca
 taaaaatgtg ttaatgacta agatcaaggg tttaggaggg aagatcagtt tcgttttgaa
 catctgaagt ttcagatatt tatagccatt gagctgaata tgccaagtaa gcagttggat
 atacaagcct gaaatttgtg aaagactggg ttagtaaaat aaatgttaat caatatcgta
 ttcatgtatt taaaggtgta actctgaatg atatccccaa gattgcaaag agtacgtcag
 tggttttcaa ctgaaggcaa ttgtttttcc ccaggggaca gctggcaatg tctggagaca
 tttttggttg tcacaatcgg ggaatgaatt actagtggca tctaataggt agaggctatt
 agagaccagg gatactgctg aacatcctac aatgctcagg atagccccac atataaagaa
 ttgtctgacc caaaatgtca gtagggccat ggttttgaaa acctagttca aagggtttct
 aagagaagag aacagaacca aagcctgagc cctcaggtgc

  GeneView back to top
GeneView via analysis of contig annotation: GPC5 glypican 5
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_009952->NM_004466
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009952->NM_004466->NP_0044575528087forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs345450 maps exactly once on NCBI human chromosome 13
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
13NW_001838084.21992298773034780plusAalt_assembly_8HuRefHuRefview366
13NW_925517.1553881973285618minusTalt_assembly_1CeleraCeleraview366
13NT_009952.14552808791236412minusTref_assemblyreferencereferenceview366

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC016459.2 AC027429 AL353714 AL353714.2
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL596221.3 AL353714.5

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .