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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12305038          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
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_000921.3:c.34G>A
NP_000912.3:p.Asp12Asn
NT_009714.16:g.13281226G>A
XM_001723042.1:c.124+523A>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 ss40100752 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12305038 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
ss18755091SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_13281226fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag02/20/0403/04/04120Genomicunknown
ss40100752ABI|hCV25600078fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag07/16/0507/16/05126Genomicunknown
ss74899684ILLUMINA|ILMN_Human_1M_rs12305038fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag08/28/0708/29/07129Genomicunknown
ss78648287HGSV|Cor18507_SNV_20070510.chr12_20413519fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag10/19/0710/20/07129Genomicunknown
ss86243586CORNELL|hCV25600078fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag01/21/0801/21/08129Genomicunknown
ss1132565131000GENOMES|NA19240_2008_12_16_2423410_chr12_20413519fwd/TA/Ggcagtgcccggcgacgctgcacgagtcaggacaagcccgtccacagtggggtgagtcaag12/18/0812/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12305038|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GATCGTTTCT GCCCGTGCTT GTTTTCAACT TGAGCGTGCT AGCCTTTAAC TTGAAGAAGT
 CTCATTGGAG CATCTAGCAT TCTCCAGGAG TTATTCGAAA GCTGAAACTT TCAGTGGATT
 GTGGGCCTGG GGAGAAGAAG GATTCCGAGG GTGGAATTGG GAAGAGCGTG CGTGCGTGTG
 TGTGTGTGTG TGTGCGCGCG CGCGCGTGGG TCGGGGCGGG GGCGTCGGGG GGCCACTGGG
 AATTCAGTGA AGAGGGCACC CTATACCATG GCAGTGCCCG GCGACGCTGC ACGAGTCAGG
 R
 ACAAGCCCGT CCACAGTGGG GTGAGTCAAG CCCCCACGGC GGGCCGGGAC TGCCACCATC
 GTGCGGACCC CGCATCGCCG CGGGACTCGG GCTGCCGTGG CTGCTGGGGA GACCTGGTGC
 TGCAGCCGCT CCGGAGCTCT CGGAAACTTT CCTCCGCGCT GTGCGCGGGC TCCCTGTCCT
 TTCTGCTGGC GCTGCTGGTG AGGCTGGTCC GCGGGGAGGT CGGCTGTGAC CTGGAGCAGT
 GTAAGGAGGC GGCGGCGGCG GAGGAGGAGG AAGCAGCCCC GGGAGCAGAA GGGGGCGTCT

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_009714
dbSNP Blast Analysis
UniGene Cluster ID
386791

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .