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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs7419238          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_023007.1:c.32T>C
NM_053052.2:c.-30G>A
NP_075383.1:p.Val11Ala
NT_004559.13:g.4125235G>A
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 ss87997109 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7419238 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
ss11208640SC_JCM|chr1.NT_004559.10_1436399fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca07/03/0310/10/03116Genomicunknown
ss16397654CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004559.11_4099275fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca02/17/0403/04/04120Genomicunknown
ss17333547CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_004559.11_4099275fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca02/19/0403/04/04120Genomicunknown
ss20556157SSAHASNP|WGSA-200403-chr1.chr1.NT_004559.11_4099275fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca03/18/0403/18/04121Genomicunknown
ss77596738HGSV|Cor12156_SNV_20070510.chr1_224229816fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca10/09/0710/13/07129Genomicunknown
ss79062528HGSV|Cor18507_SNV_20070510.chr1_224229816fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca10/19/0710/22/07129Genomicunknown
ss84199585HGSV|Cor19240_SNV_20070510.chr1_224229816fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca11/30/0712/06/07130Genomicunknown
ss87997109BCMHGSC_JDW|JWB-0196173fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca02/26/0802/27/08129Genomicunknown
ss98009186HUMANGENOME_JCVI|1103675355661fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca03/30/0803/30/08130Genomicunknown
ss106637479BGI|BGI_rs7419238fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca09/16/0806/17/09130Genomicunknown
ss1118844121000GENOMES|NA19240_2008_12_16_237998_chr1_225989704fwd/TA/Gagaagacgcagggcgccgcgtttctgccccccagcgcctggggctccgggcctgcacgca12/16/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7419238|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GAAGCCCCGC ACAAAGTCGG CGTAGGAGAA GGCGCCCGGC TCCGAGACGA AGGCTACCCG
 GCCCGGAGCC TGGCCGACGC CGGGGACATC GACCCCCAGG CCTCGGAAGT GGCTGTCGGC
 GAGGGCGCGC GTCTCGCGGT CCATCCAGCT CAGCACGGGT CGAAGGACCC TCCTCCTCAC
 TTCCGCCGGA GCGGAAACGG TGAGGACCAG CCTCGGAACC AGAAGACGCA GGGCGCCGCG
 TTTCTGCCCC
 R
 CCAGCGCCTG GGGCTCCGGG CCTGCACGCA TGCGCGCGGC TCGCCGCGGT CTTCACTGCG
 CAGGCGCCGA GCGGCCGAGG CGCCGCGGTC GGCTCTGGGA CTCGTCTGGC GTCCCTCAGG
 TGAGCGACGG TGTTGGTCTG TTGGGCGCCC GGCCCAAGCC AAGCCGTAGC GTCCGCCCTC
 GGCTCAGTCC GCGCGCTGTG GCTGACACAG CCCGAGCCCT CCTTCCCGCA TCCCCGGGGG
 GTGGGGGGTA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_004559 ABBA01009609
dbSNP Blast Analysis
UniGene Cluster ID
325081

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 HWP A
ss11208640 HapMap-CEU European 118 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 82 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
526 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .