NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs8051833          
refSNP ID: rs8051833
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
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_012410.1:c.1162+517C>T
NM_201575.1:c.1372+517C>T
NT_010393.15:g.21209469G>A
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 ss12361247 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8051833 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
ss12361247WI_SSAHASNP|chr16.NT_024812.10_1297634fwd/TA/Gctactaaaaatacaaaaaaattagtcgggccggtggcgggtgcctgtagccccagctact07/04/0310/10/03116Genomicunknown
ss21329209SSAHASNP|WGSA-200403-chr16.chr16.NT_024812.10_1297634fwd/TA/Gctactaaaaatacaaaaaaattagtcgggccggtggcgggtgcctgtagccccagctact03/19/0403/19/04121Genomicunknown
ss40699329ABI|hCV26012659rev/BC/Tagtagctggggctacaggcacccgccaccggcccgactaatttttttgtatttttagtag07/17/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8051833|allelePos=1879|totalLen=2392|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 CTCTTGCTAC TGTTTATACA ACTCCTCTGT TTCAGCCACA ATGAAATTCT GTTTCCCAGA
 CATACCAGGC ATTTCCCTAC TTGCTGTTTC TCAAAGTTCC TCTCTTTCCt tttcttttct
 tttcttcttt ttttttgaca gggtcttgct ctgttgccca ggctggagca cagtggtgca
 atcatagctc actgcaacct ctggggttca agtggggttc aagtgatcct cccacctcaa
 ccttccatgt agctgggact agaggtgtgt gccaccacac ctggataatt attacttttt
 tttaatttgt agacacagga tctcactatg ttgctcagac tggttctcaa actcctggcc
 tcaaacaatc atcccacctt ggcctcccaa agtactggga ttagagacac gagtcaccac
 aactggccTC AATCTTCCTC TTTTAAAATA TCCTCTGTTg gctgggcagg gtggctcacg
 cctgtaatcc tagcactttg agaggccgag gtgggaggat cacttcagct cagtagttgg
 agaccagcct gggcaacata gtgagatgct gtctctacaa aaaatgtaaa aattacccag
 gcatggtgcc gaacgcttgt ggtcccagct actagggagg ctgaggcagg aggatcactt
 gagcccagga ggttgaggtt gcagtgaacc atgatcgggc caccgcacta cggcctgggc
 gacaaagcaa gaccTATTTC aataataata ataataataa taaAATACCC TCTATCCTTT
 AAGGCCAAGG TGAAATGCCT CTTCCTCCAT GATCACTTCC ttgtttctac cccttcacat
 tcattcctct tcttctggta acggcatccc aattttaatt ttgggacgca ggccttcccc
 actcccagtc cactaggtta agttggagcc caccagggaa ggccacgtga ggcagattag
 ccaatcccaa tactcccttc tcctagctca gtgattggct caggctaagg ccaaccagga
 tcttagtcag gtcaatgaac gcctctcctg gcatttttgc tgagctctca ggaaatatat
 gagtgttctc tctgatgagg ttactcggtt ggtggtatgg gctggaggag gtggcttaca
 cctgtaatcc tggcactttg ggagtcccac atgggcgaat cacttgagcc caggagttca
 agaccagcct gggcaacatg gtgaaacccc gtctctacta aaaacccaaa aattagctgg
 gcgtggtgat gcatgcctgt aatcccagct actcgggagg ctaaggaatg agaatcgctt
 gaacctggag gaggggggct gcagtgagct gagatcgcgc cactgcactc cagcctgggc
 gacagagagg aactctgtct caaaataaat aaataaataa aaataaataa aaactaaaaa
 ctgtcaggcg cagtggctca cgcctgtaat cccaacactt tgggaggcgg aggcgggcag
 atcacctgag ttcgggagtt ccagaccagc ctgaccaacg tggagaaacc ccatttttac
 taaaaataca aaattagctg ggcatggtgg cgcatgcctg taatcccagc tactcgggag
 gctgaggcag gaaaatcgct tgaacccggg aggcagaggt tgcggtgagc cgagatcatg
 acattgcacc ccagcctggg caacaagagc aaaactccgt ctcaaaataa ataaaggccg
 ggcgcggtgg ctcactcctg taatcccagc actttgggcg gccgaggcag gcggatcaca
 aggtcaggag atcgagtcca tcttggctaa cacggtgaaa ccccgtctct actaaaaata
 caaaaaaatt agtcgggc
 R
 cggtggcggg tgcctgtagc cccagctact cgggaggctg aggcaggaga atggcgtgaa
 cccggaaggc ggagcttgca gtgagccaag atggcgccac tgcattccag cctgggtgac
 agagcgagac tcgtctcaaa aaataaataa ataaataaat aaaataaaaa ttaagttggt
 ggtatgtaag tcggcagcta tgtccatcac acagggaaag tgcctaagga tgaagccagc
 acagaggaaa gaaccgagat actgagataa ctggtctctg ggctatgtac ctggatccag
 acattcatga agcTTAAACA GAGAAGGCTG CCTGGGGGAA GGAGAAGGGG TCCCTAGAAG
 AGATCCTTGC AGTTTTGGGG CAGGGAAGCG AGTCACGTTT CAAGGAACCC AGCACGGAGA
 TGAACAGGCA TAGAGTTTGT GCTTCCGACT ATGCTTGGTG TCAGGAAGAG GGGAAGGTGT
 GGCGGTTGGG GTCCTGTGGG GGAGTGGGTC ACT

  GeneView back to top
GeneView via analysis of contig annotation: SEZ6L2 seizure related 6 homolog (mouse)-like 2
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_010393->NM_012410
svfunction
referenceNT_010393->NM_201575
svfunction
HuRefNW_001838235->NM_012410
svfunction
HuRefNW_001838235->NM_201575
svfunction
CeleraNW_926539->NM_201575
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010393->NM_012410->NP_03654221209469reverseintron
referenceNT_010393->NM_201575->NP_96386921209469reverseintron
HuRefNW_001838235->NM_012410->NP_036542324613forwardintron
HuRefNW_001838235->NM_201575->NP_963869324613forwardintron
CeleraNW_926539->NM_201575->NP_963869307605forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8051833 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
16NW_001838235.232461327557086minusTalt_assembly_8HuRefHuRefview1878
16NT_010393.152120946929803891plusGref_assemblyreferencereferenceview1878
16NW_926539.130760572901005minusTalt_assembly_1CeleraCeleraview1878

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024812
dbSNP Blast Analysis
GenBank HTGS Finished:
AC120114.2 NC_000016.8

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .