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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs260330          
refSNP ID: rs260330
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001465.3:c.1135+13252G>A
NM_199335.2:c.1135+13252G>A
NT_006576.15:g.39161433C>T
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 ss1861259 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs260330 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
ss339947KWOK|OVLP-000621-86679rev/BC/Tttttttttttttttttttgagacagagtttgctcttgttgcctaggctggagtgcaattg06/30/0010/10/0379Genomic99 %
ss1153546KWOK|OVLP-000804-472104fwd/TA/Gcaattgcactccagcctaggcaacaagagcaaactctgtctcaaaaaaaaaaaaaaaaaa09/02/0010/10/0392Genomic99 %
ss1861259KWOK|OVLP-000925-4787fwd/TA/Gcaattgcactccagcctaggcaacaagagcaaactctgtctcaaaaaaaaaaaaaaaaaa10/06/0010/10/0392Genomic99 %
ss3631585SC_JCM|AC015575.5_46684fwd/TA/Gcaattgcactccagcctaggcaacaagagcaaactctgtctcaaaaaaaaaaaaaaaaaa09/24/0110/10/03100Genomicunknown
ss83946715HGSV|Cor19240_SNV_20070510.chr5_39224433rev/BC/Tttttttttttttttttttgagacagagtttgctcttgttgcctaggctggagtgcaattg11/30/0712/06/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs260330|allelePos=571|totalLen=804|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ACAACCAGCA TCTCTTACTT GTCTTCCTGA TCATTGTGAG CTCTAAATGG ATCTCTGAGG
 AGAAAGATGA CCAGGACAGA TAGTGGTTCT AACAGTGAAT GTGTCATATA TTCAGAAGAA
 GCAAAAGAAA AAACACCAAA ATTGTGCCTT CATCTTTCAA AGGTTCTTAA ACTTCTAGTT
 GCATAAGAAT GTccccaaag tttttagttc aagaggtctg ggatggaact caggaattgg
 aatagctatc aagtttcacc agatgattct aatgcaaggt gttcctggat cacattaaaa
 agtactgTAG TCAGAcgggc gcagtggctc acgctagtag tcccaacact ttgggaggct
 gagacgggcg gattacctga ggtcaggagt tcgagaccag cctggccaac atggtgaaac
 cccatctata ctaaaagtac aaaaaattag ccgggcgtgg tggcaggcgc ctgtaacccc
 agctacttgg gaaagtcact tgaaccccgg aggcggaggt tgcagtgagc caagatcgca
 caattgcact ccagcctagg caacaagagc
 R
 aaactctgtc tcaaaaaaaa aaaaaaaaaa aaaGTGCTGT AGTTGATGAG AAGGATTAGA
 GTGGGGGCAG TGGGGCTACG GGGGCTGTGG GGTGGTACGT TGGGGTTAGG TGTGCAAGGG
 TTGGTGGGGA GATGAAGGGT TTCTAAGCCA TAGATATTTT TCTTAAAAGA AATACTGTAA
 CACTGAACCA AGATACTAGC AGTTAGTGAT TACATCAAAA CATGCAAATG AAT

  GeneView back to top
GeneView via analysis of contig annotation: FYB FYN binding protein (FYB-120/130)
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_006576->NM_001465
svfunction
referenceNT_006576->NM_199335
svfunction
HuRefNW_001838933->NM_001465
svfunction
HuRefNW_001838933->NM_199335
svfunction
CeleraNW_922596->NM_001465
svfunction
CeleraNW_922596->NM_199335
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006576->NM_001465->NP_00145639161433reverseintron
referenceNT_006576->NM_199335->NP_95536739161433reverseintron
HuRefNW_001838933->NM_001465->NP_0014563482863reverseintron
HuRefNW_001838933->NM_199335->NP_9553673482863reverseintron
CeleraNW_922596->NM_001465->NP_0014564785739reverseintron
CeleraNW_922596->NM_199335->NP_9553674785739reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs260330 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_922596.1478573939075225minusCalt_assembly_1CeleraCeleraview570
5NW_001838933.1348286339140252minusCalt_assembly_8HuRefHuRefview570
5NT_006576.153916143339224433minusCref_assemblyreferencereferenceview570

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC015575 AC010633 AC015575.5
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC010633.8 NC_000005.8 AC015575.5

  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 .