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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3935012          
refSNP ID: rs3935012
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:108/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_025154.3:c.*1243T>G
NT_007819.16:g.403170T>G
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 ss5192992 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3935012 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
ss5192992TSC-CSHL|TSC0021235fwd/BG/Tattgcacaacagtcctcaaatacactgatgatgaaactattcatacatcaagcagcattt09/20/0210/10/03108Genomicunknown
ss6161827SC_JCM|NT_007819.10_209885fwd/BG/Tattgcacaacagtcctcaaatacactgatgatgaaactattcatacatcaagcagcattt01/10/0310/10/03111Genomicunknown
ss42949385ABI|hCV26241542fwd/BG/Tattgcacaacagtcctcaaatacactgatgatgaaactattcatacatcaagcagcattt07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3935012|allelePos=268|totalLen=694|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=126
 TCACCATTCT CACGTGATTC TTGTGAGACT CTTTTTGGTT ATAATTACTA TTTAATATTT
 AGACTATTTT ACTGAGCAGA CTTTATAAAT GAGATATCTA CAAGGCACTT AAAGTGTTAC
 AGATGTTTTA CCTTAAGAAT TATTTAAGTT GTGTTGGGTT AAGACAGTTT TCAGTGTACC
 GTAAATGTTG TGTTTTCAGA AAAAGACAAA ACGATGGTGC TGACTGGTTT TCTGTATATT
 GCACAACAGT CCTCAAATAC ACTGATG
 K
 ATGAAACTAT TCATACATCA AGCAGCATTT TTTTCACTCT CCTTAGAATT GGAACTATGC
 AGTTAAGGCA GATAAAATGT ACAGATGTTT CATATATTAC AGGTTACATA TATAAATCAA
 AATTTCCTAT ATAAAACTGA TTTGGGATTT GGGGTGGaaa tattttgaat attaatttat
 ttttaaaGAT GCAAGATAGG ACTTTGTGCA ATGTATTTTT GTAAATGCTT TTCAAAATAT
 CTGTCTTTGG TAGTGCTTCT GCTGCTGCCA CCAAATTGAT AAGATGCTAT TAAGAGGGTT
 TAAATAAAGA GTTTTAATTT TTAAAAGGGC ATGGGATATA AACAGCCTAT TTCTTTTCTC
 AGTTTGCTGT TTCTGCCCTG GGATGTGGGA GGGACTGGGT TTGCTGGTTC TTGTTGGAAG
 CTCTGT

  GeneView back to top
GeneView via analysis of contig annotation: UNC84A unc-84 homolog A (C. elegans)
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: C7orf20 chromosome 7 open reading frame 20
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_007819->NM_025154
svfunction
HuRefNW_001838998->NM_025154
svfunction
CeleraNW_923206->NM_025154
svfunction
CRA_TCAGchr7v2NT_079592->NM_025154
svfunction
referenceNT_007819->NM_015949
svfunction
HuRefNW_001838998->NM_015949
svfunction
CeleraNW_923206->NM_015949
svfunction
CRA_TCAGchr7v2NT_079592->NM_015949
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007819->NM_025154->403170forward34843' UTR
HuRefNW_001838998->NM_025154->635122forward34803' UTR
CeleraNW_923206->NM_025154->825994forward34273' UTR
CRA_TCAGchr7v2NT_079592->NM_025154->919160forward34843' UTR
referenceNT_007819->NM_015949->NP_057033403170forward5' near gene
HuRefNW_001838998->NM_015949->NP_057033635122forward5' near gene
CeleraNW_923206->NM_015949->NP_057033825994forward5' near gene
CRA_TCAGchr7v2NT_079592->NM_015949->NP_057033919160forward5' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3935012 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
7NW_001838998.1635122832877plusTalt_assembly_8HuRefHuRefview267
7NT_007819.16403170880737plusTref_assemblyreferencereferenceview267
7NW_923206.1825994883597plusTalt_assembly_1CeleraCeleraview267
7NT_079592.2919160969160plusTalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view267

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007819.10
dbSNP Blast Analysis
GenBank HTGS Finished:
AC099731.5 NC_000007.12
UniGene Cluster ID
438072

  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 .