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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs7103293          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
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
NG_007425.1:g.5914G>A
NM_022725.2:c.883G>A
NM_022725.3:c.883G>A
NP_073562.1:p.Val295Ile
NT_009237.17:g.21433715C>T
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 ss48408942 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7103293 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
ss10649321BCM_SSAHASNP|chr11.NT_009237.15_14047578fwd/BC/Tcccagggcacatcttgggactcagttccaaccaaatgcctttctgaaggtcatagtgcaa06/29/0310/10/03116Genomicunknown
ss48408942APPLERA_GI|hCV25760805byFreqrev/TA/Gttgcactatgaccttcagaaaggcatttggttggaactgagtcccaagatgtgccctggg09/28/0511/03/06126Genomicunknown
ss69312643PERLEGEN|PGP04772013byFreqfwd/BC/Tcccagggcacatcttgggactcagttccaaccaaatgcctttctgaaggtcatagtgcaa01/30/0703/31/08127Genomicunknown
ss74817717AFFY|SNP_M-316008fwd/BC/Tcccagggcacatcttgggactcagttccaaccaaatgcctttctgaaggtcatagtgcaa08/09/0708/09/07128Genomicunknown
ss74896475ILLUMINA|ILMN_Human_1M_rs7103293fwd/BC/Tcccagggcacatcttgggactcagttccaaccaaatgcctttctgaaggtcatagtgcaa08/28/0708/29/07129Genomicunknown
ss76576354AFFY|AFFY_6_1M_SNP_A-8437549fwd/BC/Ttgggactcagttccaaccaaatgcctttctga08/28/0708/30/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7103293|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 TTGTAATTTT CATTTTGTAA ACTATATATT CTATATTCAA GTAATAACAC AGCATTGCCT
 ATACAGAACT GAGGCCTGCG CTGAGACCCA AAACTTGTCT TTTCCTAAAT GCACCACTAC
 GAAGAGCTAA TAAGAGGTCT GTCCAGATGC TAAGACCAGG TACTTCAAAA TCTCCATCCT
 GCGCTTTACA GGTCTCCAGG GCAGTTAGAA CTTTATCTTT CAGAGGTGGA GGGGCCTGAC
 AGAGGCTTTG AAACCTATTG TGCAACTCCT CCCAGGGCAC ATCTTGGGAC TCAGTTCCAA
 Y
 CCAAATGCCT TTCTGAAGGT CATAGTGCAA ACGTTGACCC CAGTCTGTTA GCAGACCCAG
 ATAGACAGGA GACAGCGCTG GGTGGCGGCT AGTCACTAAA GTCAAAAGCC CGGCTGGGAG
 GGCGCGACAA AAGGCAGCAA AGACTTCCGA ATTCCCCAGA AGCCAGTGGA CTAGCACTTG
 GCTCCCCTCT CCAGGTGATT TGTGGATGCC GGGTTCCAAC TCTTCTTGGG GCCGACGAGA
 CAAAGGCGGC TGCAACAGCG CCACCGCTAT CACCTTCAGG AAGTTGTTCT GAGGCAAGCG

  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_009237
dbSNP Blast Analysis
UniGene Cluster ID
523543

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss48408942 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.950 0.050 1.000 0.975 0.025
AGI_ASP population multiple 74 IG 0.946 0.054 1.000 0.973 0.027
ss69312643 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.950 0.050 0.975 0.025

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.017+/-0.092 816 638 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
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .