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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12704982          
refSNP ID: rs12704982
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_018842.3:c.1423-2630G>A
NT_007933.14:g.23160329C>T
XM_001724858.1:c.-522G>A
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 ss22621473 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12704982 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
ss22621473SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_23159637fwd/BC/Tcatctgcatgtttctcagggacctgaaacccagcactccttctggatacaaggctggcag03/21/0403/21/04121Genomicunknown
ss22932054SSAHASNP|AACC-200403.chr7.NT_007933.13_23159637fwd/BC/Tcatctgcatgtttctcagggacctgaaacccagcactccttctggatacaaggctggcag03/22/0403/22/04121Genomicunknown
ss44785497ABI|hCV8994997byFreqfwd/BC/Tcatctgcatgtttctcagggacctgaaacccagcactccttctggatacaaggctggcag07/19/0511/03/06126Genomicunknown
ss93733593BCMHGSC_JDW|JWB-2348309fwd/BC/Tcatctgcatgtttctcagggacctgaaacccagcactccttctggatacaaggctggcag02/26/0803/05/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12704982|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGAACGTCCT GCTGGGTATA CGGAGTCACA TCATGAAAAT TCATTGTGTG CTTTTCTGTC
 TGTGGTATTC TGTAATACAA TGTTTACTTT AAAATATGTA TTGggccagg gacagtggct
 catgcctgta atcccagcac tttgggaggc tgaggtgggc gcatcacctg aggtcgggag
 ttcgagacca gcctgaccaa catggagaaa ccccgtctct actaaaaata caaaattagc
 tgggtgtggt ggcgcacgcc ggtaatccca gctactcagg aggctgaggc aggagaatcg
 cttgaacagg gaggcagagg ttgtggtgag ctgagattgc accactgcac tccagcctgg
 gcaacagagt gagactccat ctgtaaaaaa caaaaaaaca aaaaaCCAAC AAAACAAAAA
 CAGAAACAAC AAAAACATAT TGGACGTGTT CAGGCAGATT TCCCGTTTAA CATCTGCATG
 TTTCTCAGGG ACCTGAAACC
 Y
 CAGCACTCCT TCTGGATACA AGGCTGGCAG GAGCCTCTCT GCCTCCCTCT CCACTGCAAA
 GGAGACCCAC GAGGGCAGGG GCTTGGCACA TACGGTGCCT CTTATCTGGT GGCCCCCAAG
 GGTCTCACAG CATCCTCCCT GCGTCCCTGT CTCAACCGCA TACCTCACAC TCAGCCCACT
 GTGGTGGTCA CTGAACATAG

  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
GeneView via analysis of contig annotation: LOC100128461 hypothetical protein LOC100128461
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: LOC100134598 hypothetical protein LOC100134598
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
referenceNT_007933->XM_001724858
function
HuRefNW_001839064->XM_001722656
function
CeleraNW_923574->XM_001724217
function
CRA_TCAGchr7v2NT_079595->XM_001724239
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_06133023160329reverseintron
referenceNT_007933->XM_001724858->23160329reverse1395' UTR
HuRefNW_001839064->XM_001722656->926270forward1395' UTR
CeleraNW_923574->XM_001724217->21158992reverse1395' UTR
CRA_TCAGchr7v2NT_079595->XM_001724239->23152131reverse1395' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12704982 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_001839064.292627092526440minusGalt_assembly_8HuRefHuRefview500
7NW_923574.12115899292619955plusCalt_assembly_1CeleraCeleraview500
7NT_079595.22315213197250919plusTalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view500
7NT_007933.142316032997763989plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceHWPC
T
ss44785497AoD_African_American 90AF 0.700 0.300
AoD_Caucasian 92AF 0.540 0.460

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.472+/-0.1160000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .