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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs15245          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:52/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001007565.1:c.127G>T
NM_006070.4:c.127G>T
NP_001007566.1:p.Val43Phe
NP_006061.2:p.Val43Phe
NT_005612.15:g.6927802G>T
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 ss24793201 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs15245 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
ss17640CGAP-GAI|63854byFreqfwd/BG/Ttatgatgaattagtgctaatgatgcaacgattttcagaggaaaacttctgagtaatgatg08/23/9905/16/0452cDNA99 %
ss16264478CGAP-GAI|1529244fwd/BG/Ttatgatgaattagtgctaatgatgcaacgattttcagaggaaaacttctgagtaatgatg11/18/0311/22/03120cDNAunknown
ss24793201SEQUENOM|sqnm109644fwd/BG/Ttatgatgaattagtgctaatgatgcaacgattttcagaggaaaacttctgagtaatgatg06/18/0406/18/04124cDNAunknown
ss74813669AFFY|SNP_M-289904fwd/BG/Ttatgatgaattagtgctaatgatgcaacgattttcagaggaaaacttctgagtaatgatg08/09/0708/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs15245|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=cDNA|build=130
 CCCCGCGACG CCCCAGTCCA GTGGCCTCGC GTCCGCCCAT TCAGCGGAGA CCTGCGGAGA
 GGCGGCGGCG CGGCCTCCGC AAGCCGTCTT TCTCTAGAGT TGTATATATA GAACATCCTG
 GAGTCCACCA TGAACGGACA GTTGGATCTA AGTGGGAAGC TAATCATCAA AGNTCAACTT
 GGGGAGGATA TTCGGCGAAT TCCTATTCAT AATGAAGATA TTACTTATGA TGAATTAGTG
 CTAATGATGC AACGA
 K
 TTTTCAGAGG AAAACTTCTG AGTAATGATG AAGTAACAAT AAAGTATAAA GATGAAGATN
 GAGATCTTAT AACAATTTTT GATAGTTCTG ACCTTTCCTT TGCAATTCAG TGCAGTAGGA
 TACTGAAACT GACATTATTT GTTAATGGCC AGCCAAGACC CCTTGAATCA AGTCAGGTGA
 AATATCTCCG TCGAGAACTG ATAGAACTTC GAAATAAAGT GAATCGTTTA TTGGATAGCT
 TGGAACCACC TGGAG

  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
dbSTS GenBank
sqnm109644 Y07968 AA236931 X85960 Y07968
dbSNP Blast Analysis
UniGene Cluster ID
518123

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP G
 T
ss17640 CEPH 184 AF 0.970 0.030

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.058+/-0.160 0 0 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .