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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs13312120          
refSNP ID: rs13312120
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_018842.3:c.52-16131A>C
NT_007933.14:g.23242151T>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 ss22961711 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13312120 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
ss22961711SSAHASNP|AACC-200403.chr7.NT_007933.13_23241459fwd/BG/Tgctctgttcctggcttctctttctttaaagacttatcatactgtataagatattccctgt03/22/0403/22/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13312120|allelePos=345|totalLen=845|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=121
 AAAAATAACA CGACTGGAAA TAGCTAAGCA TGGGGAGAGA AATGATGAAA GGTAGTTTCC
 TGGTGTGTTT TAGCCTCAGT TCTCGTGTCC ATCATAAGTG AATGTCATCA GTGACTTCTG
 TCCTTTTAAC ACAGGGTGGG AAGAGGCATT GAAAGCCGGG ACATTCCCTG CAGCTGCATG
 CTCCACCTGG GTTTGGGCTG AGGCACACTG GCCTCCGGGC TGTTCTCCAA ACAGGTCACA
 TCCATTCCCA CAAACTCTCA GAGACACCTT CCTTGACCTC TTCCACAAAT GGTGGCAACC
 CCAGCCTCTC TCTAGCTCTG TTCCTGGCTT CTCTTTCTTT AAAG
 K
 ACTTATCATA CTGTATAAGA TATTCCCTGT TTACTCTCTG TCTCCTTGGT AGAAACTACA
 TGTAATCAAG GCTAGGGATG tttttttttt tagactaagt cttgctctgt cgcgcagcct
 ggagtacagt ggcatgacct cggctcactg caacctctgc ctcccaggtt caagcagttc
 tcgtgcctca gcctctccag cagctgggac tataggcaca cgccaccatg tccATGGctc
 agcactttgg gaggccaagg cagaaggctc actCtttttt tttttgagat ggagtctcgc
 tctgttgctc aggctggtgt acagtggcgt gatctcggct cactgcaacc tccgcctccc
 ggttcaagca attctgctgc ctcagcttcc cgagtagctg ggactacagg cgtctgccac
 cgcgcctggc taattttttg tatttttagt agagactggg tttcaccgtg ttagccagga
 tggtctcaat ctcctgacct

  GeneView back to top
GeneView via analysis of contig annotation: BAIAP2L1 BAI1-associated protein 2-like 1
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_007933->NM_018842
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007933->NM_018842->NP_06133023242151reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs13312120 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839064.284474892607962minusAalt_assembly_8HuRefHuRefview344
7NW_923574.12124080592701768plusTalt_assembly_1CeleraCeleraview344
7NT_079595.22323394497332732plusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view344
7NT_007933.142324215197845811plusTref_assemblyreferencereferenceview344

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933
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 .