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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2230749          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
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_004152.2:c.158C>T
NP_004143.1:p.Ser53Phe
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 ss32479363 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230749 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
ss3177924WICVAR|WI-19047fwd/BC/Tgcggcagcagcagtgagagttccagggtctcctccactgctgtagtaacccgggtccggg06/28/0110/10/0398cDNAunknown
ss32479363EGP_SNPS|OAZ1-003589fwd/BC/Ttgacctgcatcatcttcagttccagggtctcctccactgctgtagtaacccgggtccggg01/06/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2230749|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=125
 TGTCCTGGGC GGCGCCGCCC GAGGAGTCGG GGCTCAGTGA CCGCTGCCCT TGTAGGTGCT
 TGGGGCAGGC GTTGGAGCTG CCTTCGGGAA GCCTCGGGGG TGTGGGACCG GGTGGGCCCC
 TGCCTGGGCG GGGCGGGGTC TTCTGGCCGA GGCAGGGGTG GGGATGTGCT GAAGGCCGCC
 CGGGCGCCCT GGAGGGGTCT CCGCCCGGAG CCTGGCGCTG CCTCGTGACC TGCATCATCT
 TCAGTTCCAG GGTCT
 Y
 CCTCCACTGC TGTAGTAACC CGGGTCCGGG GCCTCGGTGG TGCTCCTGAT GCCCCTCACC
 CACCCCTGAA GATCCCAGGT GGGCGAGGGA ATAGTCAGAG GGATCACAAT CTTTCAGCTA
 ACTTATTCTA CTCCGTGAGT ATGGGGCCGG GCCTGCTGGG GCTGCTCTGG GGCCACAGGT
 ACTTTCTTGT GCACCTTGCT GCCCGTACCT GTGATTGAAT GTAATCGTGG GAACCCTGAG
 TTTCATCAGA GCCGG

  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
U09202
dbSNP Blast Analysis
UniGene Cluster ID
446427

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss3177924 MITOGPOP6 multiple 50 IG 0.960 0.040 1.000 0.980 0.020
ss32479363 PDR90 Global 172 IG 0.988 0.012 1.000 0.994 0.006

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.018+/-0.093 115 115 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 YES YES

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Revised: May 25, 2006 1:38 PM .