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: rs6644948          
refSNP ID: rs6644948
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:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
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 ss82015405 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6644948 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
ss8548708SC_SNP|NT_033330.5_65445fwd/BC/Ggggattacagatgtgagcctctgcgcccagctcactttctatatttgtttcctccttctt05/23/0310/10/03116Genomicunknown
ss82015405HGSV|Cor19240_SNV_20070510.chrX_1607227fwd/C/Ggggattacagatgtgagcctctgcgcccagctcactttctatatttgtttcctccttctt11/30/0712/01/07130Genomicunknown
ss84443202HGSV|Cor18517_SNV_20070510.chrX_1607227fwd/C/Ggggattacagatgtgagcctctgcgcccagctcactttctatatttgtttcctccttctt12/06/0712/07/07130Genomicunknown
ss94210722BCMHGSC_JDW|JWB-2662959fwd/C/Ggggattacagatgtgagcctctgcgcccagctcactttctatatttgtttcctccttctt02/26/0803/06/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6644948|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 CCAGCCCCCA AACATCAGCC TAATGGCTAA TGTCAGCATG ACCAGAAACA TTCCAGCCGT
 GGGATAAACC CCTCTGTGAC CAGAAACCTC CCCTCCGACC AGAGACAGTC CAACCCCGCA
 ATCAATTTTC CCTCACACAG AAACATTCCG AGCCTGCGAG AAGCCCCCTT TTCCAAAACC
 CTTTGCTGAG CCACTTTTTG TATTTTTTTT TTTTTTTTTG AAACGGAGTC TCGCTGTGTC
 GCCCAGGCTG GAGGGGCAGT GATGCCATCT CGGCTCACTG CAAGCTCCAT CTCCCAGGAT
 CAAGCGATTC TCCTGCCTCA GTCTCCCGAG TAGCTGGGAT TGCAGGTGGG CGCCACCACA
 CCCGGCTAAT TTTTGTATTT TTAATAGAGA TGGGGTTTCA CCATGTTGGT CAGGCTGGTG
 TCGAACTCCT GACCTCAGGT GATCCGCCCG CCTCGGCCTC CCAAAGTGCT GGGATTACAG
 ATGTGAGCCT CTGCGCCCAG
 S
 CTCACTTTCT ATATTTGTTT CCTCCTTCTT AAACTCTTAC ATTTGGTGCC GAAACCCAGG
 ACAGGTGTTA CGGACAGAGG CCCTTTTGCA ACCCAGGATG CAGTGGGCAG GGGCAGCCTG
 TCCCGGGCTA ACTCCTGGAT CCTTTAGAGC CTCTGGCCCT CTGACCCTGT CCTTTCTCTC
 TCTCCCTCTT TGAGTGTTGG GAGTGGAGGT TCTCTTGCAA CCCAGGAAGC TGTGGGCAGC
 AGCAGCTCAT CCTGGGCTAA CTCCTGGATC GTGAGGGTCT CTGGCCACCC CTCCCATCTT
 TTCTCTCCAT TCACCTTCCA AGCAATTTGT GTGAGGAAGA CAACTCATGT AAAGGGGACT
 TAGAGGCTCA AGCTGGAGGG TTCTCAAAAC CCTCAGGTCT CAGAAATCCA CCTCTGACCC
 CCTGCAACAG GTATTTCGCT CCCTAACCCT TGCTTCGTCT TCCTCTCTCT TCGTCCGTCT
 TCTTCCCTCT TCTCTCTCTC

  GeneView back to top
GeneView via analysis of contig annotation: LOC100133578 similar to acetylserotonin O-methyltransferase-like
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
CeleraNW_927700->XM_001714539
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
CeleraNW_927700->XM_001714539->XP_001714591244022reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer: rs6644948 was not linked to the human genome 36.3 because it aligned to more than 2 locations on the genome.
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
UnNW_001841157.1492211unplacedminusGalt_assembly_8HuRefHuRefview400
XNT_033330.72491661523400plusGref_assemblyreferencereferenceview400
XNW_927700.12440225845740plusCalt_assembly_1CeleraCeleraview400
YNT_113972.12491661523400plusGref_parreferencePARview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033330
dbSNP Blast Analysis
GenBank HTGS Finished:
AL683870.15

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
HWPC
ss8548708HapMap-CEUEuropean 75IG 0.500 1.000
HapMap-HCBAsian 60IG 0.500 1.000
HapMap-JPTAsian 65IG 0.477 1.000
HapMap-YRISub-Saharan African 81IG 0.473 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0000

  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 .