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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2497767          
refSNP ID: rs2497767
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_152725.2:c.1836+7980C>G
NT_008705.15:g.275592C>G
XM_001715946.1:c.10-780G>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 ss16061615 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2497767 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
ss3504047SC_JCM|AL590111.8_120082fwd/BC/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc09/24/0110/10/03100Genomicunknown
ss12969207SC_SNP|NT_008705.14_275592fwd/BC/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc10/22/0310/31/03126Genomicunknown
ss16061615SC_SNP|NT_008705.15_275592fwd/BC/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc11/18/0311/22/03126Genomicunknown
ss19879918CSHL-HAPMAP|CSHL-HuFF-200402.chr10.NT_008705.15_275592fwd/BC/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc02/21/0403/04/04126Genomicunknown
ss20723746SSAHASNP|WGSA-200403-chr10.chr10.NT_008705.15_275592fwd/BC/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc03/18/0403/19/04126Genomicunknown
ss39700463ABI|hCV8986705fwd/C/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc07/16/0507/16/05126Genomicunknown
ss85828811HGSV|Cor19129_SNV_20070510.chr10_18340273fwd/C/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc12/06/0712/10/07130Genomicunknown
ss86061072HGSV|Cor18517_SNV_20070510.chr10_18340273fwd/C/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc12/06/0712/11/07130Genomicunknown
ss88117233BCMHGSC_JDW|JWB-0244275fwd/C/Gggaactcctggcctcaagtgatccacctgctcagcttcccaaaatgctgggattacaggc02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2497767|allelePos=616|totalLen=987|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 TCTCAGATCA TACACACACA TACACACAGA TCTTCCAAAG CAGTTATTTT AAAAATGCAG
 TTGGCCCTAG AACAACATGG GTTTGAACTG CATGGGTTCA CTTATACTCA GATTTTCTTC
 CACCTCTGCC ACCTCTGAGA CAGCAAGACC AACCGTTCCT CCTCCTCCTC CGTCCCTTCA
 ATGTGAAGAT GAGGATGAAG ACCTATATGA TTGTCCACTT CTACTTAACT AATAGTAAAT
 GTATTTCTCC TCTTTATGAT TTTATTTTCT TTTCATTTCG TTTCTCTTTT CTTCTTTCTT
 TTCTTTCCCA AAACAAAATA ATACAAAGCC CAGGCGCCCC CTCCAGGTAT TTCCTCCCTT
 CCTTCCTTCC TTCCTTTCTT TTTTTGAGAC AGAGTCTCAC TCTGTCGCTC AGGCTGGAGT
 GCAGTGGCGC GATCTCAACT TACTGCAGCC TCTGCCTCCC AGGTTCAAGC AATTATCCTG
 CCTCAGCCTC TGGAGTAGCT GGGATTGCAA ACATGTGCCC CCATGCCCGC TTATTTTTAT
 GCTTTTAGTA GAGATGGGGT TTCGCCATGT TGGCCAGGCT GGTCTGGAAC TCCTGGCCTC
 AAGTGATCCA CCTGC
 S
 TCAGCTTCCC AAAATGCTGG GATTACAGGC ATGAGCCACT GCACTCATCC CCCTTATGAC
 TTTCTTAATA ACATTTTCTT TTCTCTAGCT TACTTTATTG TAAGAATACT GTATATAATA
 CACAGAGCAT ATAAAATATG TGTTAATTGT GTTATTGGTT AGGCTTCTGG CCAGCAGTAG
 GCTATAAGTC GTTAAGTTTT GGGAGAGTCA AAAGTTATAC ATGAATTTTC AACTGTGCAG
 GGATCAGCAT CCTAACCCCC ACATTGTTCA ACTGAACTAA AGCTGGCTGA CATCTGTCTT
 TGCTGAGCTT TACGACTAAG AATTTGTCTA ACTGAATCAC TTCCCCTAAG GAAAAAAAGG
 AGAAGAGAAT T

  GeneView back to top
GeneView via analysis of contig annotation: LOC100129213 hypothetical protein LOC100129213
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: SLC39A12 solute carrier family 39 (zinc transporter), member 12
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_008705->XM_001715946
function
HuRefNW_001837931->XM_001716879
function
CeleraNW_924584->XM_001718637
function
referenceNT_008705->NM_152725
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_008705->XM_001715946->XP_001715998275592reverseintron
HuRefNW_001837931->XM_001716879->XP_00171693112815673forwardintron
CeleraNW_924584->XM_001718637->XP_00171868917986773reverseintron
referenceNT_008705->NM_152725->NP_689938275592forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2497767 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
10NW_001837931.21281567317966304minusCalt_assembly_8HuRefHuRefview615
10NW_924584.11798677317986773plusCalt_assembly_1CeleraCeleraview615
10NT_008705.1527559218340273plusCref_assemblyreferencereferenceview615

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008705 AL360231
dbSNP Blast Analysis
GenBank HTGS Finished:
AL360231.16

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .