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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7203157          
refSNP ID: rs7203157
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_006324.2:c.650+11068A>G
NT_010498.15:g.29032119T>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 ss10839313 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7203157 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
ss10839313BCM_SSAHASNP|chr16.NT_024797.13_2129633byFreqfwd/BC/Tcattccgtaacatttgacaaatacacaaaaaatattagtttaataaaaagtctgttttgg06/30/0304/07/04116Genomicunknown
ss16729461CSHL-HAPMAP|CSHL-HuAA-200402.chr16.NT_024797.14_2129633fwd/BC/Tcattccgtaacatttgacaaatacacaaaaaatattagtttaataaaaagtctgttttgg02/17/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7203157|allelePos=500|totalLen=1432|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=120
 AATAAGATAC AGCCCCAGCG Aggcgctgtg gctctcacct gtaatcccag cactttggga
 ggccgaggtg ggcggatcat gaggtcaagt gatcgagacc atccttgcca atatggtgaa
 accctgcctc tactaaaaat acaaaaatta gccgggcatg gtggtgggcg cctttagtcc
 cagctactcg ggaagctgag gcaggagaat tgcttggacc tgggaggtgg aggttgcagt
 aagccgagat cgtgccactg cactctagcc tggcaaaaga gcgagactcc gtcttaaaaa
 aaaaaaaaaa aaaaaGATAC AGCCCCAAAT TTGGCTCACA ATTTATCTCA GTGTTTATAA
 AATCTAGATT TTTTTACCTG ATCTCTTAAA TGACTGAAGA TTAATTAACT TTGATAATTT
 GATACAATAT GGAAACTACC TACAGGTAAT ATGCAAACCT TAATTTATTC ATTCCGTAAC
 ATTTGACAAA TACACAAAA
 Y
 AATATTAGTT TAATAAAAAG TCTGTTTTGG TAACAGTTTT CAAAAGAGGA AAAATTTTgg
 ctgggcgcag tggctcacat ctgtaatcct agcactttgt gaggctgagg tgggcagatc
 acctgaggtc aggagagcag cctggccaac aaggcgaaac cccatctcta ctaaaaatac
 aaaaattagc caggcatggt ggcacatgcc tgtaatccca gctacttggg aggctaaggc
 aggagaattc cttgaaccca ggaggtggag gttgcagtga gccgagcgag atagcaccac
 tgcactctag cctgggcgac agagtgagac tccatctcaa aaaaaagaga aagaaaagag
 gaaaaaTTTT AAACCACCAC ACAAACCAGC AGGTTATAAA GATACAGTTA CTACAATGAT
 CGTGGAGAAA TGCAGATAAA TACATATTGG TAAATGTATG GAAACTGGTC TTCTCACATA
 ATACTGGCAT GACTTCAAAT TGCTtctGCC Tatttagcag cagctattag aatttaagat
 gcacataccc aatgacccag caatcccact tctaaaattc tgtccttcag aaataacagt
 atgagaacat aaaaaacata tgtgtaagga ttatcacaga ttattaataa ctgtaaaatt
 tggaaaactg taaatgttca tcaataagag aaggtgcact caaattatgg aagtcacaaa
 atggaatacc aggcaggcat aaaaaaaata cagatgttta tattgaacCT GGAGAGATGC
 CCAAGATAGA CTGTTAAGTA AAAATACAAG TTGCAAGAAG AAACTAAAAC tatatatata
 tatatatata tatatatata tatatatata tatatatTGC AGACCAGTAC AGACAGGGTA
 AGTCCACTTT TGTTTTAAGT ATCTACGAAT GC

  GeneView back to top
GeneView via analysis of contig annotation: CFDP1 craniofacial development protein 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_010498->NM_006324
svfunction
HuRefNW_001838327->NM_006324
svfunction
CeleraNW_926528->NM_006324
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010498->NM_006324->NP_00631529032119reverseintron
HuRefNW_001838327->NM_006324->NP_006315992082reverseintron
CeleraNW_926528->NM_006324->NP_006315952173reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7203157 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_926528.195217359712259plusTalt_assembly_1CeleraCeleraview499
16NW_001838327.199208261168619plusTalt_assembly_8HuRefHuRefview499
16NT_010498.152903211973975421plusTref_assemblyreferencereferenceview499

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024797
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC009054.8 NC_000016.8 AC009105.7

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss10839313HapMap-CEUEuropean 120IG 0.250 0.567 0.183 0.294 0.533 0.467
HapMap-HCBAsian 90IG 0.244 0.600 0.156 0.200 0.544 0.456
HapMap-JPTAsian 88IG 0.295 0.455 0.250 0.584 0.523 0.477
HapMap-YRISub-Saharan African 120IG 0.050 0.483 0.467 0.200 0.292 0.708

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.497+/-0.03627021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .