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: rs2181342          
refSNP ID: rs2181342
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/129
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_014661.3:c.-174-9780T>C
NT_035040.4:g.485764A>G
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 ss3118281 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2181342 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
ss3118281TSC-CSHL|TSC1225081fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa06/07/0110/10/0396Genomicunknown
ss15888421SC_SNP|NT_035040.4_485764fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa11/17/0311/22/03120Genomicunknown
ss20657727SSAHASNP|WGSA-200403-chr10.chr10.NT_035040.4_485764fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa03/18/0403/18/04121Genomicunknown
ss77136276HGSV|Cor12156_SNV_20070510.chr10_126395226fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa10/09/0710/11/07129Genomicunknown
ss81094051HGSV|Cor18555_SNV_20070510.chr10_126395226fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa11/27/0711/27/07130Genomicunknown
ss88393434BCMHGSC_JDW|JWB-0350151fwd/TA/Gctgatggacgagcttcctataggcactccctaattctcacgaccgctcatgtccttttaa02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2181342|allelePos=39|totalLen=648|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AAAAATAACT GATGGACGAG CTTCCTATAG GCACTCCC
 R
 TAATTCTCAC GACCGCTCAT GTCCTTTTAA CCCACAAACA CTATGAAAGA AGAGCTTGCT
 ATAGACTGGA AGCTGCTTGA CACACTCAAA AGGAAGGAGA CGAGGGACAA GAGGCACGGA
 GAGAGGAGAA CTCACACTTA CCGAGTGGCC ACAGAGCTAG ATGCCGCCTT CTGCTCCAAA
 CCGGGGGAAG GGAAAGAATG GGAAGAGAAC CAGAGGACAA TGAGGGGACC GCAGCGGGCC
 CCAAAGATAA TCTACTATCA TGTTAAGCCA CTTAGCCTAA GACAACCATG ACCTGTTCTT
 CAGTCGGACC TATTTATAAG TATACTGAAT TTACTCAAAC CATGACTAAA AACCAACAGA
 AGAGGGGTGG AAAAAAAAGA TTTAAAAACA AAAATGGAAA GACCCAAACA AAAGGCTGTG
 TGGCCTAGGT GGATCAAGCA GGACTTAGGG GATGGGGGCT CTGGGCTTGA CAGtgccact
 tactggctct gcccagtttg ccaagttatt tccctcctcg gagcctcagt tccctcatga
 gtcaaatagg ATGCTGGGCC AGATAAGCTC CGTTTCTGAC TAGTGAGACT CTAACTGTAG
 TCACGTATC

  GeneView back to top
GeneView via analysis of contig annotation: FAM53B family with sequence similarity 53, member B
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_035040->NM_014661
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_035040->NM_014661->NP_055476485764reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2181342 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
10NW_001838010.1412668120091766plusGalt_assembly_8HuRefHuRefview38
10NW_924884.137181973120179156plusGalt_assembly_1CeleraCeleraview38
10NT_035040.4485764126395226plusAref_assemblyreferencereferenceview38

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035040
dbSNP Blast Analysis

  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

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 .