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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6852620          
refSNP ID: rs6852620
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_000203.3:c.299+4507G>T
NM_022042.2:c.-27-726C>A
NM_134425.1:c.-27-726C>A
NM_213613.2:c.-28+265C>A
NT_037622.5:g.976244G>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 ss10177706 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6852620 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
ss10177706BCM_SSAHASNP|chr4.NT_037622.3_976074fwd/BG/Tgtctgctgggggagcagcactcagacactacctagcccatccgcctggacttgggacaga06/27/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6852620|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=116
 CCCATGCCCA CACCAGAGCC CTCCCTCCCC CATCCAAACC ATCGCCTGCT CTCCTGGAGA
 CACCTCCACC CACCCCTCTG TCACCTGCCC TGTGGGTCCT GGGGCTGGCG GAAGTCTCAG
 GAAGAGGCCT CCTATGTCCC TGCCAAGCTT TGTGGGTACT GGGACCCCAA GTCTGCTGGG
 GGAGCAGCAC TCAGACACTA
 K
 CCTAGCCCAT CCGCCTGGAC TTGGGACAGA ATTCTGAGAA TATGCCTGGA CGGGGGCCCC
 ATCAGGGCCA GCTGGGAGGG GAGGAGGGTG ACTGGCGTCT GTCTCCCCTG CCCAGACAGT
 TCTGGGACGT GAGGCGCCCT TTTTCCCAGG CTGCACCAGC TCACTGTGGA ACGGCCATGA
 CACACTGTCC CGAGGCAGCA

  GeneView back to top
GeneView via analysis of contig annotation: SLC26A1 solute carrier family 26 (sulfate transporter), member 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: IDUA iduronidase, alpha-L-
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_037622->NM_022042
function
referenceNT_037622->NM_134425
function
referenceNT_037622->NM_213613
function
referenceNT_037622->NM_000203
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_037622->NM_022042->NP_071325976244reverseintron
referenceNT_037622->NM_134425->NP_602297976244reverseintron
referenceNT_037622->NM_213613->NP_998778976244reverseintron
referenceNT_037622->NM_000203->NP_000194976244forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6852620 maps exactly once on NCBI human chromosome 4
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
4NW_921918.1923190923190plusGalt_assembly_1CeleraCeleraview200
4NW_001838895.1937143957462plusGalt_assembly_8HuRefHuRefview200
4NT_037622.5976244976244plusGref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_037622
dbSNP Blast Analysis
GenBank mRNA:
AB208901.1

  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 .