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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs41273858          
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
NM_000847.3:c.217A>G
NP_000838.3:p.Asn73Asp
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 ss52056397 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41273858 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
ss52056397SI_EXO|NT_007592.14_43625430fwd/BC/Tcgtagaggttgtatttgctggcaatgtagtgagaatggctctggtctgtaccaacttcat03/29/0603/29/06127Genomicunknown
ss70355523EGP_SNPS|GSTA3-009232byFreqrev/TA/Gatgaagttggtacagaccagagccattctcactacattgccagcaaatacaacctctacg04/18/0703/31/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs41273858|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127
 TGCCTGTCCT AAGCTGTTGG CTGGAGTCCA GCCTCTGAAG GCTTGAGCAC CTGGAATCAT
 TATTCCCCAT CCTCCTGAGT TCATGGTTCA TCAGTGTTTG GAAACCTCTG TCAGGGTGCT
 GGATCCATGG AATGCATCCT CTTCTAGAAT CACACTCACC TGAACCCTCC TCACGTTCAC
 TGTTTCCTCA TCCCCATGGG ACTCTGCAAT ACTGGACCTC AGTATACACG CCCAAGGCCC
 AGCCTGCTCC TGGTCATGAT GCCCTGTCAT GGTCTCACCC ACTCAAGGAA GGACCTAAAT
 CACTCTGTGT TCTCTGTGGA TGGAAGAACA CAAAATATAC CGTACAGGGC TCTCTCCTTT
 ATGTCTTTCC CGTAGAGGTT GTATTTGCTG GCAATGTAGT
 Y
 GAGAATGGCT CTGGTCTGTA CCAACTTCAT CCCATCAATC TCAACCATTG GTACTTGCTG
 GAACATCAAA CTCCCATCTT TAGAAAGAAG GAAAAAAAAG GAACATGAAA TTTCTATGAA
 TCCCACTATT TCAGGAAGAA AAATGATGGT TGAAATGACT GAGGTTATAA AATGAAAAAG
 AAATTATTGC CTGCTAACCT CAAAAACGAA ATAGTATTTT GATTTTAGCT GCCTGTAGTT
 CTTTTTCTGA CCTGATTCCT TTGACCTTTT AGCCTGTTAT TTCATTTATG TTTTTATTCC
 CCATCCAGGT ACATAGTAGG TCCCTTGTAT TTTACTTGCG TTGATTTATC GTCATGATAT
 TTTAGGAAAA AGCTGAGACA GGTTACAACG GGAGTGCCAG

  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_007592.14
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/T
 T/T
 HWP C
 T
ss70355523 EGP_YORUB-PANEL Sub-Saharan African 24 AF 1.000 1.000
EGP_HISP-PANEL Hispanic 44 AF 1.000 1.000
EGP_CEPH-PANEL European 44 AF 0.091 0.909 0.045 0.955
EGP_AD-PANEL African American 30 AF 1.000 1.000
EGP_ASIAN-PANEL Asian 48 AF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.021+/-0.100 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 UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .