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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs175494          
refSNP ID: rs175494
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
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_001042430.1:c.824-1154C>G
NM_024643.2:c.1339-1154C>G
NT_026437.11:g.56542834C>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 ss1640227 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs175494 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
ss233531KWOK|OVLP-000621-126223rev/BC/Gtagtcccagctattcaggaggctgaggcagagaattgcttgaacctaggaggcagaggtt06/30/0010/10/0379Genomic94 %
ss510998SC_JCM|AC007055.3_41510fwd/TC/Gaacctctgcctcctaggttcaagcaattctctgcctcagcctcctgaatagctgggacta07/12/0010/10/0380Genomicunknown
ss1640227KWOK|OVLP-000925-390419fwd/TC/Gaacctctgcctcctaggttcaagcaattctctgcctcagcctcctgaatagctgggacta10/04/0010/10/0392Genomic97 %
ss3467136SC_JCM|AL049780.4_85376rev/BC/Gtagtcccagctattcaggaggctgaggcagagaattgcttgaacctaggaggcagaggtt09/24/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs175494|allelePos=2075|totalLen=2731|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=100
 TCCTTTGATA GTATCTCTTC CTATTATTCA TCATTAACAA TGCCAGATCA CCAAGAGCTA
 GTTGTCTTTT TTCTCTTTAA AAAATTTAAT AGTGTTTGCA TGCATTTAAA AAACATGTAG
 TACTGAATGA CCTATAATGG AACCCCTAAT TCAGCCCCCG GAGGCAGCCT TCAGTTCTGT
 TAGATGGTTC TTCTGGTCTG CCTTTCCATA TTTCCAAATA ATATGCTTAT TTTCTTGATT
 TATCAATTTT CTACATTACC tgtttttttt tgttttgttt tgtttttttt gagacggagt
 ctctgtcgcc caggctggag tgcagtggct tgatcttggc ttactgcaac cttcacctcc
 cgtgttcaag caattattgt gcctcagcct cctgagtagc tgggcttaca ggcgagtgcc
 accacgcccg gctaattttt gtatttttag ttaagacagg gtttcaccaa gttggccaag
 ttggtcctga actcctaacc tcaagtcatc tgcccacctc ggcctcccag agtgctggga
 ttacaggcgt gagccacggt gcctgTTCTA CCTGGTAACT TCTTATGGAA GCTGGGAGTG
 AAGTTCTCTT TCATATTCCC TCTCTCCTAC TGTTCTCTTT CTCTTATCCT TCCACTGTAG
 TCGAATCACA ATTTTTGGTT AAAAGTAGTT AGCTTTCACA TTGTAATGAT CAAGTAAATT
 TTGTTCATTA ATGAGTGAAC AAATTCTGTC TCTGCCCACA TGTAcctaaa attaataatg
 gacgtatgtt ttcatttcct tcattttcta catacctgtc tttttctccc ccgcaacgat
 ccatctgata tcagacatct gttaacgttt ttgtaatgct caaacacctc tcataatcta
 tcagtttgat tttttaattc tgaaaacctc ccttcagcca ctctgatccc ttctgctcca
 acctggactg ggtattctct aggcctggtg caaactcatt ctcttggaac ttctcttTGC
 TTCTCTTCTT TGTTGGGTCC TCTGTTTCCA GCATCCTGTG TCTTCCTTTT TCTTGCATTA
 CTCCTTCCTT TGCTGAagct tactaagaag ggtgcatagc aggtatattg tcttggaatg
 aatgacacta tctatatgac aggctcccat ttgatgattt ggctaggtac agaattctag
 gaggaaaatg attatctgtt agaactttta aagtatttcc cactagcttt tagcatccag
 tgtattgttg tgaaatctaa tgccattttg attcctgttc cattacaaga aacctttttt
 tttaaaaggc tacgggattc tctatttatt ttgaaattct gaaactttac aataattgtg
 cTAGATACTT GGTAAGCCAT TTCAATCTCA AAATGTGTGA CCTTTAATTC TAGGAATGTT
 AATTGTATTA TTTCCTTAAT AATTTTCTCC TCAccaggtg ctgtggctca cgcctataat
 cccagtactt tgggaggctg aggcaggtgg atcacctgat ctcatgtgtt caagaccagc
 ctgaccaata tggtgaaacc ccatctctac taaaaataca aaaattagcc gggcgtggtg
 gcgcacgcct gtagtctcag ctacttggga ggctgagata ggagaatcgc ttgaatctag
 gaggctgacg ttgcagtcaa ccaagattgc gccactgcac tccagcctgg gtgacaaagc
 aagactccat ctcaaataac aacaacaaca aaaacaaaac aaaACAAAAC AACAataatt
 ttctcctcgt gctttctctg ttccttctgc aactcttatt ggtcacatgt tggacttcca
 ggattaactt tctaattttc taatcttttc tttttacttt ccatcttgat cttttttccc
 attctgagaa attttcttga cattagttta caacaTTTCt atttatttat ttatttattt
 tttgagacag ggtcttgctc tgtcgcccag gctggagtgc agtggcatga tcttggctca
 ctgcaacctc tgcctcctag gttcaagcaa ttct
 S
 ctgcctcagc ctcctgaata gctgggacta caggcgtgtg ccaccacgcc cagctaattt
 tgtgtatttt tagtagagat gggatttcac cgtcttagcc aggatggtct tgatttcctg
 accttgtgat ctccccacgt tggcctccca aagtgctggg attacaggcg tgagccatca
 cacctggcct ctatttaaat aatttttatt tttagctatc aaagttttaa tttacaatag
 ttctttctgg ttctctggtt gtcttttttt cacagtatac tcttcttgtt ttatggacac
 aatctcttct aatactcatt ttgttgatat ggtctcatgt taaaaaaaag ttttcttctg
 ccacctgcct tgttgctgcc tcctAAGTTT TTGTTTGTGG ACTTTTTGGC TCTTTTTCTT
 GTTAGAGCTT TTAGCAAATA TCTGATGATT CCTGGCTGTC CTTTCATATT TAAGCTTAAG
 TGGGGCTCAT TGACTAAGGA TCTTCATATT AAGGTTCCCA GATAGTGAGT CTTTTAATTA
 GCGTTTCCCA AGGTCAGTAT CTGAAGGCTT TTCTCTGGAC TGTTCTGTGT ATCCAGAGTA
 CCCCTCTTTT TCCTATGAGG ATGCCAATAT GCTTGGTACT CTGGGGGCTG AGTGGG

  GeneView back to top
GeneView via analysis of contig annotation: FAM164C family with sequence similarity 164, member C
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_026437->NM_001042430
function
referenceNT_026437->NM_024643
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_026437->NM_001042430->NP_00103589556542834forwardintron
referenceNT_026437->NM_024643->NP_07891956542834forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs175494 maps exactly once on NCBI human chromosome 14
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
14NW_925561.12233527255580742plusCalt_assembly_1CeleraCeleraview2074
14NW_001838113.22019729055711252minusGalt_assembly_8HuRefHuRefview2074
14NT_026437.115654283474612834plusCref_assemblyreferencereferenceview2074

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AL049780 AC007055 AL049780 AL049780.3
dbSNP Blast Analysis
GenBank HTGS Finished:
AL049780.4

  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 .