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: rs8109674          
refSNP ID: rs8109674
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:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_214710.3:c.236+809C>A
NT_011255.14:g.634005G>T
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 ss12466966 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8109674 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
ss12466966WI_SSAHASNP|chr19.NT_011255.13_634005fwd/BG/Tcgtgatcctcctgcctcggcctcccaaagtctgggattacaggcatgagccaccgcaccc07/04/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8109674|allelePos=1603|totalLen=2238|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=116
 AACTTAATAT TCttttcctt ttttcttttt tttttttttt gagacagagt ctcactctgt
 cccctaggct agagtgcaat cgaggcttac tgcaacctct gcctcctggg ttccagtgat
 tctcctgcct cagccctcca agcagctaag actacaggcg tgcgccacca ctcccagcta
 atttttgtat tttcagtaga gacagggttt caccatgttg gccaggctgg tctcgaactc
 ctgacctgaa gtgatccacc tgcctcggcc tcccaaagtg ctgggattac aggcgtgagc
 cacggtgccc agccCCCAAC ttaatattat gataataaat taataattat gtttattatt
 tttCCTACCT CCAATATAGA ATTAACTGCA ATAGTTGTGG TATTAATTTG AATCattatt
 ataaaaacat atttagaatg aagataatac ttattatatt tattataagt tctatttcaa
 ttataatatt aaCTACAGTA ATTTCAATAT TCTCCttttt ttatttcttt aatttttttt
 tttgagacgg agtctcgctc tgtcacccag gcaagattgc agtggtgcaa tcttggctct
 ctgcaagctc cacctcccgg gttcacgcca ttctcctgcc tcagcctcct gaatagctgg
 gactacaggc gcccgccacc atatccggct aattttttgt attttttttt agtagagaca
 gggtttcacc gtgttagcca ggacagtctc gatctcctga cctcgtgatc cgcctgcctc
 ggcctcccaa agtgccggga ttacaggcgt gagccaccgc acccggcctt tttttttttt
 ttttttttga gacaaggtct cactctgtca cccaggccgc agtggtgtga tcacagctca
 ctgcagcctc gacctcccag gctcaagcga tcctcccaca gcagcctttc aagtagctgg
 gaccacagaa gcacAGCTCC GGTGCGGAGG ACTCTGCGGG GAGGAGGGGG TGGGTGAGAT
 GGGGGTGACG GCTGCCCGTC TGGGCCTCAG TCCACTCATC TATGAAATGG AGGCCCAGTA
 ATCCATTTAA TGCTCACGCC GGCCCCGTGA TAATAttagg ttggtgcaaa agtaattgca
 cgaaaaaaat taaatggcaa aaaccacaat taACtttttt ttttccgaca gaatctcact
 ctttccccta ggctggagtg cagtggtgcc atctcggctc actgccacct ccacctcctg
 ggttcaagtg attctcctac ctcagcctcc cgagtagctg gggatacgta cagccacttg
 ctaccatgcc caactaattt tcgtattttt tttttgagac agagtctcgc tctgtccccc
 aggctggagt gcagtggcgc gatctcggct cactgaaagc gccgcctccc gggttcacgc
 cattctcctg cctcagcctc ctgggtagct gggactacag gcgcctgcca ccacatccgg
 ctaatttttt tgtattttta gtagagatgg ggtttcactg tattagccag gatggtctcg
 atctcctgac ctcgtgatcc tcctgcctcg gcctcccaaa gt
 K
 ctgggattac aggcatgagc caccgcaccc agcctaattt tcgtattttt agtagagaca
 gagtttcacc atgttggcca ggctggtctc atactcctga cctcaaacaa tccaccGTGT
 CCCAACGTGA GGGGGACTGC AGGCTGGCGG GGGAGCTGGG GACACTGCAG CCCAGGACCA
 ACCTATCCCG TGCCTGGTGG GGGCTCCTGC AGGAGGGGAC CCACCCACCC TGGCCCCAAT
 ATACATTTTA ATAGTTATTA TAACAATATG TTTAAAACGA ggcagggcat ggcggctcac
 acctgcaatc ccagcacttt gggaggcaga ggcgggtgga tcatttgaag tcaggagttc
 gagaccagcc tggccaacat ggtgaaatcc agtctctact aaaaatgcaa aaattagcca
 ggtgtggtgg tgggcgcctg tgatcccagc tactcgggaa gctgaggcag gagaatcgct
 tgagcccggg aggtggaggt tgcagtgagc cgagattgca ccgttgcact ccagcctggg
 gaaccgagac tgcctcaaaa aaaaaaaaga aCATAGTGAC AGTTACAGTA ACAGAATATG
 TACTTGTTGC GCCTGTTGCT TCTTCTGTGC TTCTT

  GeneView back to top
GeneView via analysis of contig annotation: PRSSL1 protease, serine-like 1
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_011255->NM_214710
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011255->NM_214710->NP_999875634005reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8109674 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
19NW_927140.1122452122452minusCalt_assembly_1CeleraCeleraview1602
19NW_001838476.1453196463997plusGalt_assembly_8HuRefHuRefview1602
19NT_011255.14634005645005plusGref_assemblyreferencereferenceview1602

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011255
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 .