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: rs1557508          
refSNP ID: rs1557508
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:88/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001080485.1:c.*269A>G
NT_011726.13:g.3434176A>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 ss84824374 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1557508 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
ss2400891TSC-CSHL|TSC0444744byFreqfwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga10/20/0004/07/0488Genomic95 %
ss8259032SC_SNP|NT_011726.8_2948646fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga04/17/0310/10/03114Genomicunknown
ss21012241SSAHASNP|WGSA-200403-chrX.chrX.NT_011726.11_3287126fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga03/19/0403/19/04121Genomicunknown
ss43537805ABI|hCV2609393fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga07/18/0507/18/05126Genomicunknown
ss65722212ILLUMINA|Human1-rs1557508fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga10/10/0610/10/06127Genomicunknown
ss71641688SI_EXO|NT_011726.13_3434176fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga05/07/0705/07/07127Genomicunknown
ss75007605ILLUMINA|ILMN_Human_1M_rs1557508fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga08/28/0708/29/07129Genomicunknown
ss84824374HGSV|Cor19240_SNV_20070510.chrX_152097992fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga11/30/0712/08/07130Genomicunknown
ss86011579HGSV|Cor18956_SNV_20070510.chrX_152097992fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga11/30/0712/10/07130Genomicunknown
ss94438651BCMHGSC_JDW|JWB-2713863fwd/TA/Gatgccttgaatccaagaatgagagaggacaatctggatgtggggtagggaggggcttaga02/26/0803/06/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1557508|allelePos=409|totalLen=909|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AGGCCTTCCG CCGGAGCTCC GGCCTCAGTC GCCACCGGCG GATCCACAGT GGGGCGCGGC
 GCTGCGAATG CAGCCAGTGT GGCCGCGTGT TCAAGAGGCG CTCGGCACTG CAGAAGCATC
 AGCCAACCCA CCACGAGTAG AAACGCCCTG TGGTCCCGCG GGACAGGGAC GGAGTCCCCA
 GAGGGGATGG CAGAGTCAAA GGAGATGAAC AGTTTTGTAG CGCTTATATA TTTTGTCTTC
 CAAAAGGTTG AGACCGATTT ATACTGCCAC CAGCAATTTA TAAGTGTTAC GTTATGCCCA
 TCAAGAGTAG CTTGTACCAT TTAACTTAGT TTGGCTAGTT TAACTGGTAG GAAGTACCAT
 CAAGGTATTT CAGTCCACAT GCCTTGAATC CAAGAATGAG AGAGGACA
 R
 ATCTGGATGT GGGGTAGGGA GGGGCTTAGA GGTCATCAAC TCCAAGCTCC CCCCGCCCCA
 GAGAAACACA CAGAGCTGTT CCACGATGGC GTCCTCATAA TGTGATCCCA GCTTTCCTGA
 AGAGAACGTT GCCCTCATGA TTTTTGGCCT ACTTGAATTT ATAAATTTTT AGGGATGTAA
 ATAGAACACT CAAATGTCTT AAAATATTTA ATTTATTAAT TTAGTTATAC ATACATACTG
 TAAATCACAT ATTATATAAA ATAATATATT AATTTAGAAA ATACCCCATT TTTGCCACCC
 TCCCTTTCAC GAAATCATTT TACTCTGACT CCTCACCGTC TTCACCAACA TGGGAACCCT
 GTTTGAGTCA TCAGACAGTT TCAAGACACA CCCAGTCACT TCCATCCGAG CTCTGCACGG
 TCGCTCAGTG ACGATCCCTT CATGAGGCTC TCATTAGAAA TTTTCTCCCA AGCCATAAGA
 CCATATTTGC AGAACATTAG

  GeneView back to top
GeneView via analysis of contig annotation: ZNF275 zinc finger protein 275
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_011726->NM_001080485
svfunction
HuRefNW_001842416->NM_001080485
svfunction
CeleraNW_927732->NM_001080485
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011726->NM_001080485->3434176forward17273' UTR
HuRefNW_001842416->NM_001080485->13714reverse17283' UTR
CeleraNW_927732->NM_001080485->554268forward17283' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1557508 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842416.213714141272985minusCalt_assembly_8HuRefHuRefview364
XNT_011726.133434176152266896plusAref_assemblyreferencereferenceview364
XNW_927732.1554268152846621plusGalt_assembly_1CeleraCeleraview364

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011726.13
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:
NM_001080485.1 AC152007.1 AC152008.1 AC153069.1 NC_000023.9
UniGene Cluster ID
348963

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss2400891HapMap-CEUEuropean 120IG 0.433 0.217 0.350 0.479 0.542 0.458
HapMap-HCBAsian 90IG 0.156 0.178 0.667 1.000 0.244 0.756
HapMap-JPTAsian 88IG 0.091 0.023 0.886 0.020 0.102 0.898
HapMap-YRISub-Saharan African 120IG 0.100 0.133 0.767 0.273 0.167 0.833

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.401+/-0.19927021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNPNCBI
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 .