NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs10278045          
refSNP ID: rs10278045
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/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_018842.3:c.956-206T>G
NT_007933.14:g.23171690A>C
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 ss14147883 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10278045 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
ss14147883WUGSC_SSAHASNP|chr7.NT_007933.13_23170998fwd/TA/Ctgttgagaaacagaggcagcgtgcagcctgaggcatgcaccgtgcagaagaggatccctg11/05/0311/22/03119Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10278045|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=119
 GGAGGGAGTG TAGCAGTAAT GGCTTTTCAA AGCATGAGAA TCAATAGGCA CATTCCAATG
 AGCAAACCCC AGGAATCCAC CTGTTCTCAT CTTGCCAACA ATGCTCCTTC CACGGAAACT
 GACCCTGTCC TATTTCCTCG CTTTGATCAT TGCCCAGAAG GAACAGGGAC TGTTGAGAAA
 CAGAGGCAGC GTGCAGCCTG
 M
 AGGCATGCAC CGTGCAGAAG AGGATCCCTG CGGCTGCGGG CTCTTTTCCA GGCCCAAGGA
 CAAGGCGGTG TGTGCCGGGT TGATCTGCAC TGCTTTAGCC AGGATGGCTC TTCTTAGAGA
 GACAAACCGC TCCAACGCCA AACTGCCCTC GCAATTCCAA TCGCAAAGGC AGGCTAGGGC
 CACAGTTCAA ACCCAACTGC

  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_06133023171690reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10278045 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_001839064.291491092537800minusTalt_assembly_8HuRefHuRefview200
7NW_923574.12117035292631315plusAalt_assembly_1CeleraCeleraview200
7NT_079595.22316349297262280plusAalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view200
7NT_007933.142317169097775350plusAref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933
dbSNP Blast Analysis
GenBank mRNA:
AK054626.1
UniGene Cluster ID
489237

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .