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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs33965070          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_024013.1:c.488C>G
NP_076918.1:p.Ala163Gly
NT_008413.17:g.21430994C>G
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 ss48397524 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs33965070 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
ss48397524EGP_SNPS|IFNA1-002544byFreqfwd/C/Gatctgacagagaagaaatacagcccttgtgctgggaggttgtcagagcagaaatcatgag08/30/0511/03/06126Genomicunknown
ss49785925O_LEUT|IFNA1_163fwd/C/Gatctgacagagaagaaatacagcccttgtgctgggaggttgtcagagcagaaatcatgag11/16/0511/16/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs33965070|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=126
 CTGTCCTCCA TGAGCTGATC CAGCAGATCT TCAACCTCTT TACCACAAAA GATTCATCTG
 CTGCTTGGGA TGAGGACCTC CTAGACAAAT TCTGCACCGA ACTCTACCAG CAGCTGAATG
 ACTTGGAAGC CTGTGTGATG CAGGAGGAGA GGGTGGGAGA AACTCCCCTG ATGAATGCGG
 ACTCCATCTT GGCTGTGAAG AAATACTTCC GAAGAATCAC TCTCTATCTG ACAGAGAAGA
 AATACAGCCC TTGTG
 S
 CTGGGAGGTT GTCAGAGCAG AAATCATGAG ATCCCTCTCT TTATCAACAA ACTTGCAAGA
 AAGATTAAGG AGGAAGGAAT AACATCTGGT CCAACATGAA AACAATTCTT ATTGACTCAT
 ACACCAGGTC ACGCTTTCAT GAATTCTGTC ATTTCAAAGA CTCTCACCCC TGCTATAACT
 ATGACCATGC TGATAAACTG ATTTATCTAT TTAAATATTT ATTTAACTAT TCATAAGATT
 TAAATTATTT TTGTT

  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
V00537
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 HWP C
 G
ss48397524 EGP_YORUB-PANEL Sub-Saharan African 24 AF 0.500 0.500 0.251 0.750 0.250
EGP_HISP-PANEL Hispanic 42 AF 0.905 0.095 1.000 0.952 0.048
EGP_CEPH-PANEL European 44 AF 0.636 0.364 0.317 0.818 0.182
EGP_AD-PANEL African American 30 AF 0.467 0.533 0.200 0.733 0.267
EGP_ASIAN-PANEL Asian 48 AF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.223+/-0.249 95 95 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 .