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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2744586          
refSNP ID: rs2744586
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001080.3:c.726+2463A>C
NM_170740.1:c.726+2463A>C
NT_007592.14:g.15365927A>C
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 ss12794717 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2744586 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
ss3873668SC_JCM|AL031230.1_51101fwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc09/25/0110/10/03100Genomicunknown
ss12794717SC_SNP|NT_007592.13_15365927byFreqfwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc10/21/0310/25/06123Genomicunknown
ss17899658CSHL-HAPMAP|CSHL-HuCC-200402.chr6.NT_007592.13_15365927fwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc02/19/0403/04/04120Genomicunknown
ss24610161PERLEGEN|afd4058039byFreqfwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc08/10/0409/13/04126Genomicunknown
ss42850457ABI|hCV2479691fwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc07/18/0507/18/05126Genomicunknown
ss83025310HGSV|Cor19240_SNV_20070510.chr6_24615655fwd/TA/Cccttataagtcaacttttttttttacctagtacacaaaagtgtttggtttggtttttttc11/30/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2744586|allelePos=263|totalLen=2263|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 GGACATttgg tgatccgaac ctcagtctgt agtagattcc ttaggaatat tttcccttct
 taaatgttga cagtagtctg ggcctatcgt gcttataaat cagttttgct aggtataaaa
 tccttggctc acattttttt ttttttactt gattatctta aatgtattct ctattttctt
 ctgatataaa gcattgctct tgaaaattca gatggtaacc taagtttctt gcccttataa
 gtcaactttt ttttttacct ag
 M
 tacacaaaag tgtttggttt ggtttttttc cccctttatc tttaaagacc aataatgtca
 ctagaatatg tctttgtgat gattgctttg agtccatact ctaggtatgc agtgtgctct
 ttcagtatgt agtttccaga ctttttgttt tatatctcta taaagttttc aggatttgtt
 cctcaccatt ggtttggttt tactccctta ggaactcctg atatccatga gttgaatctt
 ttttgtcact ttctcttgta tctttttcat cttttcccta atttttaaaa ttatctttta
 tttcTGGGTG TAAAATGTCT GATTTTATTT TTatttttta atttttattt ccataggtta
 ttggggaaca ggtggtattt ggttacatga ttaagttctt tagtggtgat ttgtgagatt
 ttggtgcatc catcacctga gcagtatata ctgcacacaa tttgtagtct tttatccctt
 gcccccttcc taccctttct ccctgagtcc ccaaagtcca ctgtgtcatt cttatgcctt
 tgcttcctca cagcttagct cccacttatg agtgagaaca tatgatgttt agttttccat
 tcctgagtta cttaacttag aataatactc tccaggccag gcgcggtggc tcacgcctgt
 aatcccagca ctttgagagg ctgaggcggg cagatcacaa gctcaagaga ttgagaccat
 cctggccaac atagtgaaac cccgtctcta ctaaaaatac aaaaattagc tgggcatggt
 ggcacgcacc tgtagtccct gctacttggg aggctgaggc aggagaatca cttggactga
 gaggcagagg ttgcagtgag ccaagatcat gccaccgtac tccagccagg tgacagagca
 agactccatc tccaaaaaaa aaaaaaaaaa aaaaaaaaaa gattaatagt ctctaatcct
 ctaatctcat ccagcccact gcaaatgcca ttaattcatt cctttttatg gctgagtagt
 attccatcct atgtataaac cacataggat acagtttatc cacttgttga ttgatgggca
 tttgggtttg ttccatgctt ttgcaattgt gaattgtgct gctataaacg tgcatgtgca
 agtatctttt ctgtataatg acttcttttc ctctgggtag atacccagta gtggggttgc
 tggatcaaat ggtagttcta cttttagttc tctaaggaat ctccacactg ttttccatag
 tggttgtact agtttacatt cccaccagca atgtagaaat gttccctgtt caccacatcc
 acactgacat ctattatttt ttaatttttt tactatgacc aaccttgcag gagtaaggtg
 gtattgcatt gtggttttga tttgcatttc cttgatcatt agtgatgttg agcatttttt
 catatgtttg tgggccattt gtatatcttc ttttgagaat tgtctattat gttcttagcc
 cactttttga tgggagtgtt ttctttgttg ttaatttgtt tgagtttgtt gtagattctg
 gatattagtc ctttgtcaga tgtatagatt gtgaagactt tctcctgctc tgtgggttgt
 ctgtttactc tgctgactgt tccttttgcc atgcaaaagc tctttagttt atttaagtcc
 cagctattta tctttgtttt agttgcattt gcttttgggt tcttggtcat gaaatccttg
 cctaggccaa tggctagaag ggtttttcca atgttatctt ctagaatttt tatagtttca
 ggtcttagat ttaagttctt gattcatctt gagtttattt tgtataaggt gagcgatgag
 gatccagttt tattttccca catgtggctt gccaattatc ccagcaccat ttgttgaggg
 aggattccct ctttctctat cttgtggaat agtgtcaata ggattgatac caattcttct
 ttgaatgtct ggtagaattc

  GeneView back to top
GeneView via analysis of contig annotation: ALDH5A1 aldehyde dehydrogenase 5 family, member A1
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_007592->NM_001080
function
referenceNT_007592->NM_170740
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007592->NM_001080->NP_00107115365927forwardintron
referenceNT_007592->NM_170740->NP_73393615365927forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2744586 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
6NW_001838974.146804724457140plusAalt_assembly_8HuRefHuRefview262
6NT_007592.141536592724615655plusAref_assemblyreferencereferenceview262
6NW_922984.12413634725741091plusAalt_assembly_1CeleraCeleraview262

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007592 AL136447 AL512385
dbSNP Blast Analysis
GenBank HTGS Finished:
AL031230.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss12794717HapMap-CEUEuropean 118IG 0.576 0.373 0.051 1.000 0.763 0.237
HapMap-HCBAsian 90IG 0.867 0.111 0.022 0.150 0.922 0.078
HapMap-JPTAsian 90IG 0.867 0.133 0.655 0.933 0.067
HapMap-YRISub-Saharan African 110IG 0.600 0.345 0.055 1.000 0.773 0.227
ss24610161AFD_EUR_PANELEuropean 46IG 0.565 0.391 0.043 0.752 0.761 0.239
AFD_AFR_PANELAfrican American 46IG 0.565 0.435 0.200 0.783 0.217
AFD_CHN_PANELAsian 48IG 0.792 0.167 0.042 0.251 0.875 0.125
CHMJAsian 74IG 0.919 0.081

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.282+/-0.24833226090

  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 .