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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10794351          
refSNP ID: rs10794351
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_012305.2:c.68-13209C>T
NT_035113.6:g.886228C>T
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 ss15917776 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10794351 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
ss15917776SC_SNP|NT_035113.5_888129fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata11/17/0311/22/03120Genomicunknown
ss18459637SC_SNP|SC-CHR9-12_NA11321-200402.chr11.NT_035113.5_888129fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata02/20/0403/04/04120Genomicunknown
ss18682258SC_SNP|SC-CHR9-12_NA17119-200402.chr11.NT_035113.5_888129fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata02/20/0403/04/04120Genomicunknown
ss18915573SC_SNP|SC-CHR9-12_NA07340-200402.chr11.NT_035113.5_888129fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata02/20/0403/04/04120Genomicunknown
ss38712366ABI|hCV395769fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata07/16/0507/16/05126Genomicunknown
ss78124362HGSV|Cor12878_SNV_20070510.chr11_936228fwd/BC/Taacctcctcccattctcttctccccagctcgtggtaaccatggaaaccagctgccttata10/17/0710/18/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10794351|allelePos=296|totalLen=2296|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TAGGAGTGAC ATGTGGAGGT TTAGAAAACA GAATCAACAG AGGCATGCAT GCTAAACATT
 CTTCATTCGT GACAGCTTTG AGTCTGCATC AGAAATGCCA CTTAGCCGGA ATGGTGGAGT
 GAGGCCTCTG TAATCCAATC CTCCATAAAA GCAGTGAAAA CACTGGCAAA AATGGTCAAA
 ATCAACTGTC AGAACGCGAA ATTAACCAAC GGTTGCGACA CTCTGAGGAG CTTTTATCTG
 TGAACAACTG TGGCACCTCT AACTCAACCT CCTCCCATTC TCTTCTCCCC AGCTC
 Y
 GTGGTAACCA TGGAAACCAG CTGCCTTATA ACCATGGTAG CTGGGAAAGC CAGCAGCCTA
 GCAGCTACTG GAGGGGACAC ATGAAGGCTG GAGCTCCTCA GCAAGTCCCG GCTGCAGAGC
 ATGTCACTCT CGGACCTGTC CCACTTACTG AGCTTGCCAT CGTATGAGCT AGCTCAGTGT
 GAAAACCCTG TTTCTGAAAG AGAGACTGTC AGTTGAGAAT TCTGTGTCCA GTAAAACTGT
 CCTTTGAAAA TAGAGGAATT GGCTGGGTGT GGTGGCTCAT GCCTGTAATC CCAGCACTTT
 GGGAGGCCAA GGTGGGTGGA TCATCTGAGG TCGGGAGTTC GAGACCAGTC TGGCCAACAT
 GGTGAAACCC CGTCTCTACT AAAAATACAA AAATTAGCCA GGCGTGTTGG CGAACGCCTG
 TAATTTAGCT ACTCAGGAGG CTGAGTCACG AGAATTGCTT GAACCTGGGA GGCGGAGGTT
 GCAGTGAGCC AAGATTGTGC CACTGCACTC CAGCCTGGGT GAACAGAGCA AGATCCTGTC
 TCAAAAAAAA AGAAATTAAG ATATTTCCAG GTAAACAATA AACAGAGGAC ATTTGTTGTT
 TTAGCCAACC TCCCTTATAA TACATACTGA AAGGAATGTC TCAGGCTGGA ATGAAAGGAC
 ACTAGGTGGT AGGATACGTG AAGAAATAAA AGAACAACGG TGAAGACAGC TACATATGTC
 AAGTTAAAAG ACAATGTAAG TGCACTTTTG TAACTTTTAG TCTCCTGTCT TTTTTTCTTT
 TCTTTTTTTT TTTTTTTTGA GACGGAGTCT CCCTCTGTCG CCAAGGCTAG AGTGCGGTGG
 CGCCGATCTC GGCTCACTGC AGCCCCCACC TCCCGGACTC AGGTGATTCT CCTGCCTTAG
 CCTTTTGAGT AGCTGGGATT ACAGACTCCC GCCACCAGGC CCAGCTAATT TTTGTATTTT
 TAGTAGAGAC AGGGTTTTGC CATGTTGGTC AGGCTGGTCT CGAACTCCTG ACCTCAGGTA
 ATCCACCTGC CTTGGCTTCC CAAAGAGCTG AGATTGCAGG CGTGAGCCAT TACGCTTGGC
 CCCTATCTGC CTTAAAAGAC AACTGTACAA AGTAATAATT ATAAAGCTGT TTTGATAGGC
 TTATAACATA TAAAGGTGTG ATTTGACAGT TACAGCACAA AAGAGAAGTG AGGGAAGAGC
 TTTATAGGAG CAACATTTCT CCGTACCATT AGAATTAGGT TTGTGTTAAT CAAAACTGGA
 TTGTTTTAAG TTAAGGTGCT AGTTGGCTGG GCGCGGTGGC TCACACCTCT AATCCCAGCG
 CTTTGGGAGG CCGAGGTGGG CGGATCACTT GAGGTTGGGA GTTCGAGACC AGCCTGGTCA
 ACATGGCAAA ACCCCATCTC TACTAAAAAT ACAAAAATTA GTTGGGCATG GTGGCGTACT
 TGGAGACAGG CCAGATGTAG TGGCTCACGC CGCCTGTAAT CCCAGCGCTT TTGGGAGACC
 AAGGTGGGAG GGTTTCTTAA AGCCAGGAGT TCGAGAGCCT GGGCAACAAA AGTGAGACCC
 CCGTCTCTAC AAAAAAAAAT TAGCCAGGCC CAGAGATGTG CCCTTATAGT CCCAGTTACT
 TGGGAGACTG AGACAGGAGG ATTGTTTAGC CTGGGAGTTT GAGGTGCAAT GAACTATGAT
 CACGCCCCTG CACTTCAGCC TGGGTGACAA AGCAAGACAT TGTCTCTTAA AAAAACTTGG
 AGATAAATGC AAATAAAAAC ACAGCATTCC AAAAATTATA CACTGCAGTG AGAGCAGGGC
 TGAGGGGGAA GTTTATAACT GTAAATACCT ACATTAAAAA AGATCTCAAA TCATTAACCT
 GTGTTTCACC TTAAGACACC AGAAAAAGCA CGAACAAAAC CTAAAACAAG AAGGAAGAAA
 ATAGCAAAGA TGAGAGCAAA GATTGGTTAT TTGAAAAGAT CATCAAAATT GGCAAACTTA
 GTGAGACTGA CTGAGATAAA

  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
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_035113->NM_012305->NP_036437886228forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10794351 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_001838016.1586880761026plusTalt_assembly_8HuRefHuRefview295
11NT_035113.6886228936228plusCref_assemblyreferencereferenceview295
11NW_924962.15932411013485plusCalt_assembly_1CeleraCeleraview295

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035113
dbSNP Blast Analysis
GenBank HTGS Finished:
AP006477.2

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .