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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11604666          
refSNP ID: rs11604666
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_012305.2:c.67+5991A>C
NT_035113.6:g.872079A>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 ss16538403 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11604666 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
ss16538403CSHL-HAPMAP|CSHL-HuAA-200402.chr11.NT_035113.5_873969fwd/TA/Cccggccaggttcaagtgattcttgtgcctcgtctcccgagtagctgggattacaggtgtc02/17/0403/04/04120Genomicunknown
ss39897285ABI|hCV11280166fwd/TA/Cccggccaggttcaagtgattcttgtgcctcgtctcccgagtagctgggattacaggtgtc07/16/0507/16/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11604666|allelePos=484|totalLen=856|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=126
 GCTTGGAGGC GTTTTCTTTA ACCCCCCCAG GTCCTCACAT GAAGGGGAAA CAGATGGAGA
 GATGTTATTA GCAAGATGGC AAAAATGAAT TTCCATGGTC TTGAAGAAAG TGATACAGTT
 TTGCTGCAGG TTTCACGATA AATTAGAAAA ATTATCAGTG CTCTGCTCAT TGTGGTTGGC
 ATAAAACTTG GTCCCTTCCA tttcttgttt tttttttttt ttttttgagg cagagtctcc
 ctctgtcacc caggctggag tgcagcggtg tgatctcggc tcactgcaac ctctgcctcc
 tgggtccaag tgattcttgt gcctcagcct cctgagtagc tggggctccg ccaccaccac
 gcccggctaa ttttttgtat tttttagtag agacagggtt tcactgtatt agccaggatg
 atctcgatct cctgacctcg tgagccacca cgcccggcca ggttcaagtg attcttgtgc
 ctc
 M
 gtctcccgag tagctgggat tacaggtgtc tgccaccacg cctagctAat ttttgtggag
 acgtggtttc accaagttgg tcaggctggt ctcgaactct tggcctcaag tgatccacct
 gcctcggcct cccaaagtgc tgggattaca ggcgtgagcc cctgtgcctg gccATTTCTG
 TTAACTTTCT TGAAATTAGA TACCCTTTGA ATTGTGTTTC AGTGGGACTA AAGTTAAATT
 TTATTTGTTC ATGCAATTCC AGTTATGGAG TCATAAATTA GATATGGAGA AACTGAACAC
 TAAATTTTAA ACTCTGCTTA AACTTCAGTA TAAAAATTAA ACATAAAGTT ATACTGATTT
 TCGTGCAGAC GA

  GeneView back to top
GeneView via analysis of contig annotation: AP2A2 adaptor-related protein complex 2, alpha 2 subunit
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_035113->NM_012305
svfunction
HuRefNW_001838016->NM_012305
svfunction
CeleraNW_924962->NM_012305
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_035113->NM_012305->NP_036437872079forwardintron
HuRefNW_001838016->NM_012305->NP_036437572908forwardintron
CeleraNW_924962->NM_012305->NP_036437579295forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11604666 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
11NW_001838016.1572908747054plusAalt_assembly_8HuRefHuRefview483
11NT_035113.6872079922079plusAref_assemblyreferencereferenceview483
11NW_924962.1579295999539plusAalt_assembly_1CeleraCeleraview483

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035113
dbSNP Blast Analysis
GenBank HTGS Finished:
AC083984.7 AC132936.9 AP006623.1 NC_000011.8

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .