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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10404390          
refSNP ID: rs10404390
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
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_001040134.1:c.5+4367G>A
NM_002579.2:c.5+4367G>A
NT_011255.14:g.653518G>A
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 ss84449383 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10404390 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
ss14695093BCM_SSAHASNP|chr19.NT_011255.14_653518fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct11/10/0311/22/03119Genomicunknown
ss20067707CSHL-HAPMAP|CSHL-HuFF-200402.chr19.NT_011255.14_653518fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct02/21/0403/04/04120Genomicunknown
ss21519126SSAHASNP|WGSA-200403-chr19.chr19.NT_011255.14_653518fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct03/20/0403/20/04121Genomicunknown
ss84449383HGSV|Cor18555_SNV_20070510.chr19_664518fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct11/27/0712/07/07130Genomicunknown
ss86205605HGSV|Cor18517_SNV_20070510.chr19_664518fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct12/06/0712/11/07130Genomicunknown
ss90878145BCMHGSC_JDW|JWB-1134733fwd/TA/Ggcaccacccagtgggggcatctctgcctctcccattagccaggttcatccttaagggcct02/26/0803/01/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10404390|allelePos=285|totalLen=785|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGAGAAACAC AGACGGTGGC CTTGTCGGTG GTCTTGGCTC CTGGGGCATC TGCCCTGCCT
 CTGTGCCCAT CCACGCCGTT CTGTGATTTG GGAGAGGAGT GTGGAGAGGG GGTCCTGACT
 CCCCGTCACA CCTTAGCATG TCAGTCTCCT CCGGGCCTCA CTGTTCTCAT CTGGCGAGTG
 GGGATGTGAC TGCCATCATT AGGGGAGATA GGGGTAGAGG AAGGGCAGGT GCTTTATGGG
 CCTGGACCCT CTGAGCACCA CCCAGTGGGG GCATCTCTGC CTCT
 R
 CCCATTAGCC AGGTTCATCC TTAAGGGCCT CAGATTTTGA CCCTAGGAAA TTGGCTTATG
 TTCTTTTTGT TTGTTTGTTT GAGACACAGT CTCGCTGTCA CCCAGGCTGG AGCACAGCGG
 TGTGATCTCG GCTTATAGCA ACCTCTGCCT CCTGGGTTCA CGCGATTCTC ATGCCTCAGC
 CTCCCAAGCC GCTGGGACTA CAGGCATGCG CCACTGCGCC TGGCTAATTT TTTGTATATT
 TTTAGTAGAG ACGGGGTTTC ACCATGTTGG CCAGGCTGGT CTCGAACTCC TGGCCTCAAG
 TGATCCGCCT GCCTCAGCTT CCCAAAGTGC TGGGATTACA AGAATGAGCC ACCATGCCCA
 GCCTATGTTC TTTTTTTCTT TCTTTCTTTC TTTTTTTTTT TTTTGAGACA GAGTCTCGCT
 CTGTCACCCA GGCTGGAGTG CAGTGGGGTG ATCTCGGCTC ACTGCAACCT CTGCCTCCTG
 GGTTCAAGCC ATTCCCCTGT

  GeneView back to top
GeneView via analysis of contig annotation: PALM paralemmin
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_001040134
function
referenceNT_011255->NM_002579
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011255->NM_001040134->NP_001035224653518forwardintron
referenceNT_011255->NM_002579->NP_002570653518forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10404390 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_927140.1102905102905minusTalt_assembly_1CeleraCeleraview200
19NW_001838476.1472410483211plusAalt_assembly_8HuRefHuRefview200
19NT_011255.14653518664518plusGref_assemblyreferencereferenceview200

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .