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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs45559437          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NG_007939.1:g.17152C>T
NM_000779.3:c.332C>T
NM_001099772.1:c.332C>T
NP_000770.2:p.Ala111Val
NP_001093242.1:p.Ala111Val
NT_032977.8:g.17248739C>T
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 ss70355083 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45559437 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
ss70355083EGP_SNPS|CYP4B1-013611fwd/BC/Tcctgattgtctcctcctgcagaccctaaggccctgatgtgtatgacttcttcctccagtg04/18/0704/19/07127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45559437|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127
 TGGCTTCCTG AACATCTATG AGCCTGACTA TGCCAAAGCT GTGTACAGCC GTGGGGGTGA
 GGAGAGAGGA TGGGGATCTC AGGAGAGGGT GGGGCTTCCT GAGAACAAAG GGCTCAGGGC
 ATGATATGGG GAGGAAGCCT GGGCCTGTGT ACTAAGTCTG CGGAGCTGAG GTTCCCACCC
 TACTCATAAA TGAGCCTCCT CTAGGAACCC CGGGTCCCTG CTTGACCTGA TTGTCTCCTC
 CTGCAGACCC TAAGG
 Y
 CCCTGATGTG TATGACTTCT TCCTCCAGTG GATTGGTGAG TGAGCACCTG CCTTCCCTGC
 CCTGCCAACC TCAGACCCGT GGTGCTGGGT GACTAGGATC CTGGCCTGTC CCACTCAATT
 GGTTATCCCA GATGGCCTAG TTCTCGGGTG CCCATCCTAA GCTCAGCTGC TCAGTGGAGA
 GACAAGGGAG GAGCAGGAGA GCCCCCAGCT GTGGGGCCAA GGCATCTTCT CTGGCAGGGC
 CTGATTCTCT AGACA

  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
DQ518907
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss70355083 EGP_YORUB-PANEL Sub-Saharan African 22 AF 1.000 1.000
EGP_HISP-PANEL Hispanic 44 AF 1.000 1.000
EGP_CEPH-PANEL European 42 AF 1.000 1.000
EGP_AD-PANEL African American 26 AF 0.923 0.077 0.962 0.038
EGP_ASIAN-PANEL Asian 48 AF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.011+/-0.073 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
UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .