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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12552045          
refSNP ID: rs12552045
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:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_014282.2:c.828-2990G>A
NT_008470.18:g.6564959G>A
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 ss19781008 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12552045 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
ss19781008CSHL-HAPMAP|CSHL-HuDD-200402.chr9.NT_008470.16_905282fwd/TA/Gtcaaatctctaagtatataggccaggtgtgtggttcagatctgtaatcccaacactttgg02/20/0403/04/04120Genomicunknown
ss43420041ABI|hCV1324284fwd/TA/Gtcaaatctctaagtatataggccaggtgtgtggttcagatctgtaatcccaacactttgg07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12552045|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 TTTTGCTTAT ATTTTTCATA ACATTGATCT GTGTATTTCT ATAATAGAAC CTTAAATTAC
 ATCAGCTCTT CAGTGAAGAT ACAGATTTGA TTCCCCACTC CCCACCTACt gttttgtttt
 gttttgtttt ggagaaagag tcttgttctg tcgcccaggc tggagtgcag tggtgccatc
 ttggctcact gcaacctccg cctcccgggt tcaagcaatt ctcctgcttc agcctcccga
 gtagctggga ttacagggat tacaggcgtg tgccaccaca cccagctaat ttttgtattt
 ttagtagaga cggggtttca ccatgttggt caggctggtc ttgaacacct gacctcatga
 tccacctgcc tcggcctccc aaagtgctgg gattataggt gtgagccacc gcgcccggcc
 TGTTTTTTCC CCTTAAACAC TTTTGAGATA TAATTCTCGT ACTATAGCAC TCAAATCTCT
 AAGTATATAg gccaggtgtg
 R
 tggttcagat ctgtaatccc aacactttgg gaggcagagg caggaggata gcttgaggcc
 aggagttcaa gaccagcatg ggctacatgg agagaccccg tctctacaaa atggttgtaa
 aaattagctg ggcctgatgg ctcgtacctg tagtcccagc tactctcagg aagctgaggt
 gggaggatcc ttgggctcag gaggttgaag gtatggtgag ccatcatcat gccactgtac
 tccagcctgg ccaacagagt gaaacccagc ctgtatcaaa caaataaaTG AGTAAACGAC
 TGAATGCATG GATGGATGGT TTGGGGTATG TTACATTATT AAttttttaa aattgcagta
 aaaataacat aaaaattgcc atttttacca ttttaatata tataatttaa tggcatcagt
 aacattcata ttgtgtgtaa ccatcaccac catccatctc tagaactttt tTTTTTTTTT
 TGAGATGGAA TCTCACTCTG

  GeneView back to top
GeneView via analysis of contig annotation: HABP4 hyaluronan binding protein 4
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_008470->NM_014282
svfunction
HuRefNW_001839235->NM_014282
svfunction
CeleraNW_924506->NM_014282
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008470->NM_014282->NP_0550976564959forwardintron
HuRefNW_001839235->NM_014282->NP_055097511572reverseintron
CeleraNW_924506->NM_014282->NP_0550972055022forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12552045 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
9NW_001839235.251157268854651minusCalt_assembly_8HuRefHuRefview500
9NW_924506.1205502269685329plusGalt_assembly_1CeleraCeleraview500
9NT_008470.18656495998283575plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008470
dbSNP Blast Analysis
GenBank HTGS Finished:
AL133477.16 NC_000009.10

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .