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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs495265          
refSNP ID: rs495265
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001033677.1:c.655-3020G>A
NM_004276.3:c.46-3020G>A
NM_031205.2:c.225+586G>A
NT_009775.16:g.11664170G>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 ss1592549 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs495265 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
ss665110SC_JCM|AC063942.8_44605rev/BC/Tgagtcttactctgtcacccaggctggagtgcatggcgcgaccttggctcactgcaacctc07/27/0010/10/0383Genomicunknown
ss1591422KWOK|OVLP-000925-264896fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc10/04/0010/10/0387Genomic99 %
ss1592549KWOK|OVLP-000925-276035fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc10/04/0010/10/0387Genomic99 %
ss2545797SC_JCM|AC063942.10_93601fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc11/03/0010/10/0392Genomicunknown
ss10710975BCM_SSAHASNP|chr12.NT_009775.13_9881540fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc06/29/0310/10/03116Genomicunknown
ss15518534SC_SNP|NT_009775.14_11613403fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc11/14/0311/22/03120Genomicunknown
ss16598573CSHL-HAPMAP|CSHL-HuAA-200402.chr12.NT_009775.14_11613403fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc02/17/0403/04/04120Genomicunknown
ss20936123SSAHASNP|WGSA-200403-chr12.chr12.NT_009775.14_11613403fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc03/19/0403/19/04121Genomicunknown
ss84402964HGSV|Cor18555_SNV_20070510.chr12_119557381fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc11/27/0712/07/07130Genomicunknown
ss89422776BCMHGSC_JDW|JWB-0617301fwd/TA/Ggaggttgcagtgagccaaggtcgcgccatgcactccagcctgggtgacagagtaagactc02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs495265|allelePos=612|totalLen=1394|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCTTCGCTGA GAACAGGCAG CCTGTACGTA AGTTGGCCCA GTGGAGCCCG CTGAACTCGG
 CTTCACAGGG CGTGAGGAGG TGCTGGGATG AAGAAGGGGT CTATACAGAG CTCACACCCC
 CAACTTATGA ATCTGATCCC CAAAGTTTTC CACTCATGGC TACAAAGTGC TGGTGAGTCC
 ATATCCACCA GCAAaataat gatgatgatg ataataataa taataataTC AGATacattg
 ttttgagcac ttactaggtg agcactgtgc ctagtgtgtt ggcggattgc ctcatttaag
 cctcagagca gctctaagag gtaggtgctt ttatcatccc cattttacag atgagaaaac
 tgacttgggc tgggcgcagc ggctcacgcc tgtaatccca gcactttggg aggccgaggt
 aggtggatca cttgaggtca ggagtttgag accaccctgg ccaacatggt gaaaccccat
 ctctactaaa atacaaaaat tagctgggca tggtggcggg tgcctgtaat cccagctact
 caagaggctg aggcaggaga atcgcttgaa cccaggaggc agaggttgca gtgagccaag
 gtcgcgccat g
 R
 cactccagcc tgggtgacag agtaagactc caactcaaaa aagaaagaaa gaaagaaaac
 tggagtgcag aggtcacatg ctcgaggtaa cagcttgttg gtggtagagg taggattcac
 acttggatag cctgactcaa gagcctcttg tgctcctaat gacaactctg taTACGTGgc
 actgtccggt agaactttct acagtgatgg aaatattcta aattccgtgc tgtccgatac
 agtagccact agccacatgt ggctattgac cacttgaaat gtggctagtg caactaagga
 actgaattat ggattttatg ttattcttac tcaaatttac atagccacat gtggctagcg
 gctagtgaat tggccagcTT TCTACAAGTA GCTAAATAGT TCAAAGAGAG GAGAGGACTA
 ATGAGGATGT TATAGAGGTA aacatttgta ggttgcattt attgaatgcc acatgctaaa
 cactttaata tcttgtctca ctgaatgcac gctaaggccc tgtgaggtgg gtactggtat
 taacccattt tacagatgag gagactgtgg ctcaaacagc agagtgacct gcctgaggAA
 GTAGATCTGA GCTTCATACT CAGGTCTGTC TGCCTCTAGA GTCCAAGTGC GTCTCCCCAG
 CCACATGTAT TGGGGAGAAA GGCGTGTTCC TGCACCCCAT TCCACCTGAC CCTGAGTTGC
 TGCACGTGAT CTTCCTGGCA CATTAGTGGG CATCCCTGGC TCTACTCCAG GGCAGAGAAC
 AC

  GeneView back to top
GeneView via analysis of contig annotation: CABP1 calcium binding protein 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_009775->NM_001033677
function
referenceNT_009775->NM_004276
function
referenceNT_009775->NM_031205
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009775->NM_001033677->NP_00102884911664170forwardintron
referenceNT_009775->NM_004276->NP_00426711664170forwardintron
referenceNT_009775->NM_031205->NP_11248211664170forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs495265 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838063.19768909118104003plusAalt_assembly_8HuRefHuRefview611
12NT_009775.1611664170119579044plusGref_assemblyreferencereferenceview611
12NW_925395.168352760120728931plusAalt_assembly_1CeleraCeleraview611

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009775 AC069234 AC069234.10 Z97197 Z97197.4
dbSNP Blast Analysis
GenBank HTGS Draft:
Z97197.5

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .