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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28494527          
refSNP ID: rs28494527
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001738.1:c.355-1010A>G
NT_008183.18:g.38124910T>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 ss35216869 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28494527 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
ss35216869SSAHASNP|TA-079.chr8_86434111fwd/BC/Tctcccttccttcctccctcccttccttcctcctccctcccttctttcctgccttccttcc03/11/05125Genomicunknown
ss43215673ABI|hCV27221501fwd/BC/Tctcccttccttcctccctcccttccttcctcctccctcccttctttcctgccttccttcc07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28494527|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 TGTATATATG TATTCTTGAT ATATTCTTGA TATCTCTACA TGGATGTCTA ATAGATGTTT
 CAGACTTAAT CTGGCCAAAA TAGAACTCTA GATTTCCTTC TTGCCAAACC TGCTTAATTT
 TACCTTCTTA GGATAAGGTT TTTAAATGCT CAATCAATAA GTACAACAAC TATCATTCAT
 TTCTTGCTTT CCCCACCTAT CAACATTCAC ATCTTACAGG TTATACTTCG TCACATGTTC
 ACAACTTTGA GCCTTTGCAT TAGCTTCTAA TTTTCTCTGG AATTTCCTTC CCCATGATCT
 TCAAATGGCA GACTTTTGTC TTGAATTAGG GTTGAACTCA AATGCCACTC CTTAAATAAT
 TCTTTCCTGA TCATCCAATA TAAAGTAACC ACCACAAATC AAAACAGTTC TATCCATATC
 ACTTATTTAA TCTCTCTTCT TCCTATTCTC CTCCCTCCCT TCCTCCCTCC CTCCCTTCCT
 TCCTCCCTCC CTTCCTTCCT
 Y
 CCTCCCTCCC TTCTTTCCTG CCTTCCTTCC TCTGAAATTT TTATTTTCCC TATCAAATGC
 AAGTTCTGAT AGCAAGTACT TTTTAAAAAC AGTATCTCAC GCCTGTAATT CCAGCACTTT
 GGGAGGCCGA GGCGGGCGGA TCACGAGGTC AGGAGTTCGA GATCAGCCTG ACCAACGTGG
 TAAAACTCCA TCTCTACTAA AAATACAAAA TTAGCCGGGT GTGGTGGCAC ATGCCTGTAA
 TCCCAGCTAC TCAGGAGGCC GGGGCAGGAG AATCACTTGA ACCTGAGAGG AGGAGGTTGC
 AGTAAGCCGA GATCGTGCCT CTGGACTCCA GCCTGGGCAA CAGAGCAAGA CTCTTTCTCA
 AAAATAAATA AATAAATAAC GACAAAAAAT AAAGACAGTA TCTGGCATAT TGTAGGTGTC
 CAGTGAATAT TTGTTGAATG AAAAAAGAAT GATTAAGACA GTATATTAAG AGGGATCACT
 TATTGCAATT TCCTCTGACC

  GeneView back to top
GeneView via analysis of contig annotation: CA1 carbonic anhydrase I
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_008183->NM_001738
function
HuRefNW_001839133->NM_001738
function
CeleraNW_923929->NM_001738
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008183->NM_001738->NP_00172938124910reverseintron
HuRefNW_001839133->NM_001738->NP_001729309136forwardintron
CeleraNW_923929->NM_001738->NP_00172939384975reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28494527 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839133.230913681741057minusAalt_assembly_8HuRefHuRefview500
8NW_923929.13938497582251910plusTalt_assembly_1CeleraCeleraview500
8NT_008183.183812491086434111plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
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 .