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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8106575          
refSNP ID: rs8106575
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:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_024552.1:c.-2+2578A>G
NT_077812.2:g.882320A>G
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 ss12461358 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8106575 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
ss12461358WI_SSAHASNP|chr19.NT_077812.1_882320fwd/TA/Gcaacctcagcctcctgagagctgggaccacggcatgcaccaccaggcctagctaatcctt07/04/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8106575|allelePos=933|totalLen=1610|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AGGGCAGAAG GAAAACCAGG AGTGGGTGGC AAGCTGGGAG CCAAGGGAGC TGGGGCTGTC
 ATAGGAGGAA AGGGTCTTGA AACCCCTGTT TGATAATTCA GTAGCAGGCA TCTTACTGtt
 tttttaatta ttattttttt tattttttgg aatggagttt cgttcttgtc gcccaggctg
 gagtgcaatg gtgcgatctc ggcccactgc aacctccacc tcccgggttc aagcaattct
 cctgcctcag cctcctgagt agctgggatt acaggtgcga accaccacac ctggctaatt
 tttatattat tagtagagat gaaggggggt gggtttcacc atgttggcca ggctggtctc
 gaactcctga cctcaggtga tgcacctgcc tcggcctccc aaagtgctgg gattacaggt
 gtgagccact gcgcccagcc CGTCTCACTT TCTTTTGTGG CTGCTCTTTA CCAACCCTGT
 TCTGTTCCCC ATGCCTTTCA GTACAAGCTC TTTTCTTTGC ttttctttct tgtttttgtt
 ttgttttttc aagacaagtt ctggctctgt tgcccaggct ggggtgcagt ggtgcgatct
 tcgcccactg caacctccac ctcccaagtt taagcaatca gcctgggact acaggcataa
 gccaccacac ctggctaatt tttgcatttt tttgtagtga ttttgtagag ttttgccagt
 tgcccaggct ggtctgaaac tattgagctc aaacgcctca gcctcctaaa gtactgggat
 tacaggcatg agccactgca ctcggccTCt ttctttcttt caaaggcaga atcttgctct
 gtcgctcagg ttggagtgca gtggcatgat cataactcac tgcagcctcg acctcctgag
 ctcaacctca gcctcctgag agctgggacc ac
 R
 ggcatgcacc accaggccta gctaatcctt aaaaaaaaat tttatacaca tggacagggg
 tcttactatg ttgcccgggc tggtcttgaa ctcctggcct caagcgagcc tccagcctca
 acctcccaaa gcactaggat tataggcatg agccactgtg cctggccAAG CGCAGGCTTT
 TCTTTGCCAT CCTTGAATAG GCCCCTCAGA CCCATCATGG CTCTGACCAG AGTAGCATAG
 AGAggcccgg cgcggtggct cacgcctgta atcccagcac tttgagaggc cgaggcgggc
 agatcacctg aggtcaggag ttcgagacca gcctggccaa tatagtgaaa ccccgtctct
 actaaaaata taaaaattaa ccctgtgtgg tggcatgctc ctgtaatccc agctacttgg
 gaggttgaga caggagaatt gcttgaaccc aggaggcaga ggttgcagtg agccaagatc
 gcactactgc actactgcac tccagcctgg gtgacagagc aagacactgt ctcaaaaaca
 aacaaacaaa aaaCAGAGTA GCATAGAAGA GACCTTCCCC TCCCTGAGTC TGGACTTTAT
 ACCTTTGTTA ATAGGATGCT GTCACACACA CACACACTGA ACCGCCTGGA GCTCAGCTCA
 GCTTTCCCTC CCTACCC

  GeneView back to top
GeneView via analysis of contig annotation: LASS4 LAG1 homolog, ceramide synthase 4
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_077812->NM_024552
function
HuRefNW_001838480->NM_024552
function
CeleraNW_927173->NM_024552
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_077812->NM_024552->NP_078828882320forwardintron
HuRefNW_001838480->NM_024552->NP_078828399461reverseintron
CeleraNW_927173->NM_024552->NP_0788287408455forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8106575 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_001838480.23994617947148minusTalt_assembly_8HuRefHuRefview932
19NW_927173.174084558149731plusAalt_assembly_1CeleraCeleraview932
19NT_077812.28823208184324plusAref_assemblyreferencereferenceview932

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077812
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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .