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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28990992          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_004958.2:c.4253+9526G>C
NM_021146.2:c.153G>C
NP_066969.1:p.Glu51Asp
NT_021937.18:g.5787156G>C
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 ss38319270 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28990992 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
ss38319270EGP_SNPS|ANGPTL7-002126byFreqfwd/C/Gagcggccaactgctgtgaggaggtgaaggactcaaggcccaagttgccaaccttagcagc04/28/0511/02/06125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28990992|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=125
 GAAAGCGTAA GGTTCAGTCA GCCTGCTGCA GCTTTGCAGA CCTCAGCTGG GCATCTCCAG
 ACTCCCCTGA AGGAAGAGCC TTCCTCACCC AAACCCACAA AAGATGCTGA AAAAGCCTCT
 CTCAGCTGTG ACCTGGCTCT GCATTTTCAT CGTGGCCTTT GTCAGCCACC CAGCGTGGCT
 GCAGAAGCTC TCTAAGCACA AGACACCAGC ACAGCCACAG CTCAAAGCGG CCAACTGCTG
 TGAGGAGGTG AAGGA
 S
 CTCAAGGCCC AAGTTGCCAA CCTTAGCAGC CTGCTGAGTG AACTGAACAA GAAGCAGGAG
 AGGGACTGGG TCAGCGTGGT CATGCAGGTG ATGGAGCTGG AGAGCAACAG CAAGCGCATG
 GAGTCGCGGC TCACAGATGC TGAGAGCAAG TACTCCGAGA TGAACAACCA AATTGACATC
 ATGCAGCTGC AGGCAGCACA GACGGTCACT CAGACCTCCG CAGGTAAGGA GACCAGTCCC
 CTGAGGGAGC GTGGA

  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
DQ012507
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/G
 G/G
 HWP C
 G
ss38319270 EGP_YORUB-PANEL Sub-Saharan African 22 IG 0.182 0.818 0.752 0.091 0.909
EGP_HISP-PANEL Hispanic 44 IG 0.227 0.773 0.584 0.114 0.886
EGP_CEPH-PANEL European 44 IG 1.000 1.000
EGP_AD-PANEL African American 28 IG 0.286 0.714 0.584 0.143 0.857
EGP_ASIAN-PANEL Asian 48 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.111+/-0.208 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
byFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .