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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2306618          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
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
NG_008600.1:g.48287A>G
NM_001182.2:c.1150A>G
NM_001182.3:c.1234A>G
NP_001173.1:p.Thr384Ala
NP_001173.2:p.Thr412Ala
NT_034772.5:g.28302809T>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 ss105439673 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2306618 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
ss3254201YUSUKE|IMS-JST064286byFreqfwd/BC/Tacgcatcgtggccaagacctgtcacaattgcggttctacataatttccagggcgatccat09/05/0110/10/03100Genomicunknown
ss16232932CGAP-GAI|1474026fwd/BC/Tacgcatcgtggccaagacctgtcacaattgcggttctacataatttccagggcgatccat11/18/0311/22/03120cDNAunknown
ss74819841AFFY|SNP_M-321168fwd/BC/Tacgcatcgtggccaagacctgtcacaattgcggttctacataatttccagggcgatccat08/09/0708/09/07128Genomicunknown
ss84159971PHARMGKB_AB_DME|PS206172_PA149445752_301fwd/BC/Tacgcatcgtggccaagacctgtcacaattgcggttctacataatttccagggcgatccat12/06/0712/10/07130Genomicunknown
ss104869211KRIBB_YJKIM|KHS1261529fwd/BC/Tacgcatcgtggccaagacctgtcacaattgcggttctacataatttccagggcgatccat07/10/0807/10/08130Genomicunknown
ss105439673SNP500CANCER|ALDH7A1-06rev/TA/Gatggatcgccctggaaattatgtagaaccgcaattgtgacaggtcttggccacgatgcgt09/05/0809/05/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2306618|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 RGTCCACTAC CCAATCTGGT TTCCCTGGCA GCTAGCTTGG CATGCTATAG AGTTTTAAAG
 TGTTTATCTC ATATTTTATC CTGAACCTTC ATATATCTAC TATTCAGATT ACTTTCTAAA
 ACCCTCTTAA AGGTTCATCC AGTGAAATTT AATCCACCAT CATTTTCCTC TTATCATTTA
 TTTCAACATY AGGCTAGSGA ACAGAATGCA TTTTTACCTK GAATTTAAAG ACATAGAGAA
 TCGGAGCAAA AGTCTCTGTG TGTGCAATGG ACGCATCGTG GCCAAGACCT GTCACAATTG
 Y
 CGGTTCTACA TAATTTCCAG GGCGATCCAT AACCTAATGC AGAGAAATGA AATAAAAAGR
 ATGAAAGCAT TTTGTTTTCT AGGACTTGGG GTCAGAGGAT GCAATCTTTG CCTACATTTA
 TAAAGAAAAA AATTAGCATC ATTTATAGGT GAATTATTTC TCCAAAATAA CTTCCAATCA
 TGAAAGAAAA TTCTCTCTTC CTGATATTGG TTCTAACTTA GTTGGTCAGA GAAAAATGGA
 AATAAGGAGT CAGGCAGGGA TAGAGAGCCA TGCCATGTGA CACAACCAAG TTATGTTGAA

  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
AC023196.2 BQ890617
dbSNP Blast Analysis
UniGene Cluster ID
483239

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss105439673 P1 204 GF 0.020 0.980 0.010 0.990
CAUC1 62 GF 1.000 1.000
AFR1 48 GF 1.000 1.000
HISP1 46 GF 1.000 1.000
PAC1 48 GF 0.083 0.917 0.042 0.958
P2 420 GF 0.005 0.048 0.948 0.029 0.971
CAUC2 120 GF 1.000 1.000
AFR2 120 GF 1.000 1.000
P3 554 GF 0.014 0.986 0.007 0.993
CAUC3 130 GF 1.000 1.000
AFR3 150 GF 1.000 1.000
HISP3 96 GF 1.000 1.000
PAC3 178 GF 0.045 0.955 0.022 0.978
ASI2 180 GF 0.011 0.111 0.878 0.067 0.933
ss3254201 JBIC-allele 746 AF 0.056 0.944
HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 86 IG 0.140 0.860 0.070 0.930
HapMap-JPT Asian 86 IG 0.093 0.907 0.047 0.953
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000
ss84159971 PA149445753 356 AF 0.034 0.966

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.033+/-0.124 610 494 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 .