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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs866357          
refSNP ID: rs866357
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_005504.4:c.6+22000G>A
NT_009714.16:g.17838835C>T
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 ss1755882 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs866357 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
ss1286766KWOK|OVLP-000804-601526fwd/TA/Gttaattgatcattcttgggtgtttctcgcaagggggatttggcagggtcataggacaata09/02/0010/10/0386Genomic84 %
ss1755882KWOK|OVLP-000925-335346fwd/TA/Gttaattgatcattcttgggtgtttctcgcaagggggatttggcagggtcataggacaata10/05/0010/10/0387Genomic84 %
ss2528111SC_JCM|AC026310.8_65813rev/BC/Ttattgtcctatgaccctgccaaatcccccttgcgagaaacacccaagaatgatcaattaa11/03/0010/10/0392Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs866357|allelePos=246|totalLen=2309|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=92
 ACTTGATTTT TACTCATTTC ATTATCATCC AAGAGATGAA ATTTAACTCA AAGCAAATGA
 CTATTGTTTC AAATACAAAT CTTAATCAGG GAGAAAAGAT TATAACTTAT AGTTGAACTG
 GGGTTTGGAG ATTATATGTG TTTTTTAAAA TTATTCTGTC CCACATGTAA CATACAAGTG
 AGGATTTTAA AAATTTGTCT GCAGtttttt tttttttaat tgatcattct tgggtgtttc
 tcgca
 R
 agggggattt ggcagggtca taggacaata gtggagggaa ggtcagcaga taaacgagtg
 aacaaaggtc tctggttttc ctaggcagag gaccctgcgg ccttccgcag tgtttgtgtc
 cctgggtact tgagattagg gagtggtgat gactcttaaa gagcatgctg ccttcaagca
 tctgtttaac aaagcacatc ttgcaccgcc cttaatccat ttaaccctga gtggacacag
 cacatgtttc aaagagcacc gggttggggg taaggtcata gatcaacagc atcccaaggc
 agaagaattt ttcttagtac agaacaaaat ggagtctcct atgtctactt ctttctacac
 agacacagca acaatctgat ttctctatct tttccccaca tttccccctt ttctattcca
 caaaaccgcc attgtcatca tggcccgttc tcaatgagct gttgggtaca cctcccagac
 ggggtggcgg ccgggcagag gggctcctca cttcccagaa ggggtggcct ggcagaggca
 cccccaacct ccctcccgga cggggcggct ggccaggcgg gggctgcccc caacttccca
 gacggggtgg ctgctgggcg gaggggctct ttacttctca gatggggcgg ctgccgggtg
 gaggggctcc tcacttctca gacggggcgg ccgggcagag gcgctcctca cctcccagac
 ggggcagcag ggcagaggcg ctccccacat ctcagacgat gggcggccgg gcagagacgc
 tcctcacttc ctagacggga tggcagccgg gaagaggcgc tcctcacttc ccagactggg
 cagccaggca gaggggctcc tcacatccca gacgatgggc agccaggcag agaagctcct
 cacttcccag atggggtggc ggccgggcag aggctgcaat ctcggcactt tgggaggcca
 aggcaggcgg ctgggaggtg gaggttgtag cgagccgaga tcacgccact acactccagc
 ttgggcaaca ttgagcactg agtgaacgag actccgtctg caatcccggc acctcgggag
 gccgaggctg gcagatcact cccggttagg agctggagac cagcccggcc aacacagcga
 aaccccgtct ccaccaaaaa aatacgaaaa ccagtcaggc atggtggcgc gcgcctgcaa
 tcacaggcac tcggcaggct gaggcaggac aatcaggcag ggaggttgca gtgagcagag
 atggcagcag tacagtccag cttcggcttg gcatcagagg gagaccgtgg aaagagaggg
 agagggagac cgtggggaga gggagagggg gagggggagC TGCAATTTTT TATTTAGCAA
 TTTCCAAACC TATtgtgtta ggcagggttc tccagggaaa cagaaccaat agggcatatc
 tatatctata tttatatctt tatctatatc tatatctata atctttctat ctatctatcA
 AGAGATCGAG agagagagat ttattttaag gaattggttc atgtgattgt gggagctggc
 aagtctgaaa tccatagggc aagttggtca gctggaaatt ctggtaagag ttgatgttgc
 agtcgtgagt ctgaaatttg cagggcaggt caggtacagt atctattgca attgcagtcc
 tgaggccaaa ttccttcttc aggaaacctc cgtctttttt gctgttaagg ccttcaacta
 attggatgaa gccctcccac attgagggca atctgcttta ctcaaagtct gctgatttaa
 atggtaatca catctaaaaa atactttcac agcaacattt gaacttgtgt tgtctaagca
 attgggcact atagcttagc caagcagaca catgaaatta accatcacTC TGTAGAGATG
 AAAGAACTAC TGTTTCAAAA AACAACTGTT TTTGAATCCG TCATTTATCA ACGGATTCAC
 CCAATGGTTA ACCTTTCTAT ATGCTTTCTC TTTCTCCCAA GTACTGAATC ATATGAAAAT
 AAATTATGGT TGTGATATTT CCT

  GeneView back to top
GeneView via analysis of contig annotation: BCAT1 branched chain aminotransferase 1, cytosolic
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_009714->NM_005504
svfunction
HuRefNW_001838052->NM_005504
svfunction
CeleraNW_925328->NM_005504
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009714->NM_005504->NP_00549517838835reverseintron
HuRefNW_001838052->NM_005504->NP_00549515488854reverseintron
CeleraNW_925328->NM_005504->NP_00549515341441reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs866357 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838052.11548885424849371minusCalt_assembly_8HuRefHuRefview245
12NT_009714.161783883524971128minusCref_assemblyreferencereferenceview245
12NW_925328.11534144130226757minusCalt_assembly_1CeleraCeleraview245

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC026310 AC025889 AC026310.7 AC026310.8
dbSNP Blast Analysis
GenBank HTGS Finished:
AC026310.24 NC_000012.10

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .