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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7605850          
refSNP ID: rs7605850
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_024080.4:c.2355+783C>T
NT_005120.15:g.812607C>T
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 ss11522397 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7605850 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
ss11522397WI_SSAHASNP|chr2.NT_005120.13_810324byFreqfwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc07/03/0304/07/04116Genomicunknown
ss14476045WUGSC_SSAHASNP|chr2.NT_005120.14_810324fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc11/05/0311/22/03119Genomicunknown
ss66626757ILLUMINA|HumanHap300v1.1_rs7605850fwd/TC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc11/09/0611/09/06127Genomicunknown
ss67805742ILLUMINA|HumanHap550v1.1_rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc11/14/0611/14/06127Genomicunknown
ss67975794ILLUMINA|HumanHap650Yv1.0_rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc11/14/0611/15/06127Genomicunknown
ss68846690PERLEGEN|PGP03972657byFreqfwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc01/30/0703/31/08127Genomicunknown
ss70937311ILLUMINA|HumanHap550v3.0__rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc04/20/0703/31/08130Genomicunknown
ss71540301ILLUMINA|HumanHap650Yv3.0_rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc04/23/0704/23/07127Genomicunknown
ss74823709AFFY|SNP_M-579260fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc08/09/0708/09/07128Genomicunknown
ss75477835ILLUMINA|ILMN_Human_1M_rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc08/28/0708/29/07129Genomicunknown
ss76725862AFFY|AFFY_6_1M_SNP_A-8587188rev/TA/Gcacggcattgtacctcgaaactgtaagtgcct08/28/0708/30/07129Genomicunknown
ss77709379HGSV|Cor12156_SNV_20070510.chr2_234661853fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc10/09/0710/14/07129Genomicunknown
ss79262814ILLUMINA|HumanHap300v2.0_rs7605850fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc04/18/0711/18/07130Genomicunknown
ss84689196KRIBB_YJKIM|KHS780308fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc12/04/0712/07/07130Genomicunknown
ss91590696BCMHGSC_JDW|JWB-1400797fwd/BC/Tagcaagtgtgtgctaggcacttacagtttcgaggtacaatgccgtgtgctatgatagatc02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7605850|allelePos=201|totalLen=2036|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGGTTGAAAA AATAAATATT GATGGTGAAA GTGGTGTTAT CCCTAAACCA TTATGAAAAG
 TCATCCCAGA AAATCTTTTC ACACTTAGCA GTTTACAAAT TGTTTGACAA CTACTGTTGT
 TGTCGTCACT GTTGTCCCCT CTGAACCTAA ATGCAAAAAT ACATCAATTC AGCAAGTGTG
 TGCTAGGCAC TTACAGTTTC
 Y
 GAGGTACAAT GCCGTGTGCT ATGATAGATC TGGAGGGGGC AAAGAGTGCT GTTCTTGCCC
 TTACAGAGTC ACTGACTCGT GTAAGAATCC TAAGTTGGCT TAaagtttca tgccaactct
 gacagacttt ttttagtgac ttctagccgt cctgggttga gaaagattcc aagggtctgt
 ctgttctcag cgggagagca ttttgatcga ttagtgatgt ctgccatggg tatgacctgg
 gggaagAGTC CTGACACCAG TGCCCTGTGT CTGACTTTCC TTGCCTAGTA GGTCTGAGGT
 GCAGATGGGG AATGGAGCTG GGATGGAGGT GGAGGAAGtg tgtctggaat tggtgggttc
 ttggtctcac taacttcaag aatgaagccg cggacccttg cggtgagtgt tacagctctt
 aaggtggtgc gtctggagtt tgttccttct gatgttcgga tgtgttcgga gtttcttcct
 tctggtgggt tcgtggtctc gctggctcag gagtgaagct gcagaccttt gcggtgagtg
 ttacagctca taaaagcagt gtggacccag aatgagcagt agcaagattt attgcataga
 gcgaaagaac aaagcttcca cactgtggaa ggggacccca gcaggttgcc actgctggct
 cgcgcagcct gcttttattc tcttatctgg ccccacccac atcctgctga ttggtagagc
 tgagtggtct gttttgacag ggcgctgatt ggtgcgttta caatccctga gctagacacc
 aaggttctcc aggtccccac tagattaact agatacagag tgtccacaca aaggttctcc
 aaggccccac cagagtagct agatacagag tgttgattgg tgcattcaca aaccctgagc
 tagacacagg gtgctgattg gtgtgtttac aaaccttgag ctagatacag agtgacgatt
 ggtgtattta caatccctga gctagacata aaggttttcc aaggccccac cagagcagct
 agatacagag tgtcgactgg tgcattcaca aaccctgagc tagacacagg gtgctgattg
 gtgtgtttac aaaccttgag ctagatacag agtgacgatt ggtgtattta caatccttgg
 gctagacata aagtttctcc acgtccccac cagactcagg agcccagctg gcttcaccca
 gtggatcccg caccgcggct gcaggtggag ctgcctgcca gtcctgcgct gtgcgcccgc
 actcctcagc ccttgggtgg tcgatgggac tgggcgccat ggagcagggg gtggcgctcg
 tggaggaggc tcgggcagca caggagccca ctgagggggt gggaggctca ggcatggtgg
 gctgcaggtc ccgagccctg ccccacggga aggcagctac ggcccggtga gaaattgagt
 gcagcgccgg tgggccggca ctgctggggg acccagtaca ctctccgcag ccactggccc
 gggtgctaaa cctctcattg cccgggcggg cagggccggc cggctgctcc cagtgcgggg
 cccgccaagc ccacgcccac ccggaactcc atctggcccg caagctccac acgcagcccc
 ggttcccgct cacgccactc cttccacact tccctgcaag ctgagggtgc cagctctggc
 cttggccagc ccagaaaggg gctcccacag tgcagcggtg ggctgaaggg ctcctcaagt
 gccgccaaag tgggagccca ggcagaggag gtgccgagag caagcgaggg ctgtgaggac
 tgccagcacg ctgtcacctc tcaGAAGCGT AAGGT

  GeneView back to top
GeneView via analysis of contig annotation: TRPM8 transient receptor potential cation channel, subfamily M, member 8
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_005120->NM_024080
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_005120->NM_024080->NP_076985812607forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7605850 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
2NW_001838868.1825182226679640plusCalt_assembly_8HuRefHuRefview200
2NW_921618.139514743228600213plusCalt_assembly_1CeleraCeleraview200
2NT_005120.15812607234544592plusCref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005120
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss11522397HapMap-CEUEuropean 120IG 0.283 0.450 0.267 0.479 0.508 0.492
HapMap-HCBAsian 90IG 0.733 0.222 0.044 0.317 0.844 0.156
HapMap-JPTAsian 88IG 0.523 0.409 0.068 1.000 0.727 0.273
HapMap-YRISub-Saharan African 120IG 0.700 0.267 0.033 1.000 0.833 0.167
ss68846690HapMap-CEUEuropean 120GF 0.283 0.450 0.267 0.508 0.492
HapMap-HCBAsian 90GF 0.733 0.222 0.044 0.844 0.156
HapMap-JPTAsian 90GF 0.533 0.400 0.067 0.733 0.267
HapMap-YRISub-Saharan African 120GF 0.700 0.267 0.033 0.833 0.167

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.403+/-0.1982702102700

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .