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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12926865          
refSNP ID: rs12926865
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:T
Clinical Association:unknown
HGVS Names
NM_004996.3:c.49-5831T>G
NM_019862.2:c.49-5831T>G
NM_019898.2:c.49-5831T>G
NM_019899.2:c.49-5831T>G
NM_019900.2:c.49-5831T>G
NT_010393.15:g.7408921T>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 ss21336949 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12926865 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
ss21336949SSAHASNP|WGSA-200403-chr16.chr16.NT_010393.14_7408106fwd/BG/Tggatcctcccacctgggcctcccaaaatgcggagttacagatgggagccaccacacctgg03/19/0403/19/04121Genomicunknown
ss40709308ABI|hCV31910343fwd/BG/Tggatcctcccacctgggcctcccaaaatgcggagttacagatgggagccaccacacctgg07/17/0507/17/05126Genomicunknown
ss77812744HGSV|Cor12156_SNV_20070510.chr16_16003343fwd/BG/Tggatcctcccacctgggcctcccaaaatgcggagttacagatgggagccaccacacctgg10/09/0710/14/07129Genomicunknown
ss90333866BCMHGSC_JDW|JWB-0926186fwd/BG/Tggatcctcccacctgggcctcccaaaatgcggagttacagatgggagccaccacacctgg02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12926865|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 CCACCGCGCC CAGCCAGGGT TGGTTCTTAA AAGCCAATAG GGAGCCATGG GAAGTTGTTT
 CCCAGCAGAA GAGAGAAGGC CATTAGATCT GCCCTATTTA TTAATGCAAA TATCTAAGTC
 TATGAATCTT CCTCTGAGCA GGAAAACGTG attgctttta aatccatatg gaaagaccct
 cagttttact catgataaag agaaaaggaa cttaaactac acagagatat ttttcacttc
 agattggcag aggtcggaaa cttgttatct gctgtgcttt gtgaagtaat tgcctttgta
 ccttatcagc tggagtatga attgatgttc cctatttgga gggcagtgtc tgtctaaatg
 ttactgtagg caccctttga cctggcaggt tccttttttg aaagtttata tatatgtgag
 acagagtctc attatgttgc ccagggtggt ttcaaactcc tgggctcatg ggatcctccc
 acctgggcct cccaaaatgc
 K
 ggagttacag atgggagcca ccacacctgg cagagaaagt gatcttatca acactcttgc
 ttgagtgtga aattcaattg tttattcaat gctgcattgt ttgtaagagg aacaccaatg
 ccaagtcccc aggagaccga tggaagtcaa gttcatccct acaatagaat acaaagcagc
 cgtaacaaag agtgaggaaa ctgttcatgt atactgcggg atgatcttta aaatctgtgg
 ttaagagaaa aaagcaaagt acggaacatt atgtaacgta tgcttccttC GATTTGATAA
 CAGAAGATGT ATATTTACTT TATTTTTGTA TAAAATATTT TCTGAAAGAA GACATAAGCA
 ACCCATGATC ATTGCCTCTA GAGAGAGGAA CTGAGGGGAG GGCCATAGGG AATGGAATGA
 GAAGACTTGT CCCTTGTACC TCTTTGTTCA AAAGAAATAT CAAGAATAAA ACACATCTAT
 GTTACTGATA AAGATAGTTT

  GeneView back to top
GeneView via analysis of contig annotation: ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 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_010393->NM_004996
function
referenceNT_010393->NM_019862
function
referenceNT_010393->NM_019898
function
referenceNT_010393->NM_019899
function
referenceNT_010393->NM_019900
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_004996->NP_0049877408921forwardintron
referenceNT_010393->NM_019862->NP_0639157408921forwardintron
referenceNT_010393->NM_019898->NP_0639537408921forwardintron
referenceNT_010393->NM_019899->NP_0639547408921forwardintron
referenceNT_010393->NM_019900->NP_0639557408921forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12926865 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_001838356.162710215488971plusGalt_assembly_8HuRefHuRefview500
16NW_926051.162931315776333plusTalt_assembly_1CeleraCeleraview500
16NT_010393.15740892116003343plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
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 .