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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs28423004          
refSNP ID: rs28423004
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:A/T
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_005045.2:c.7349+655T>A
NM_173054.1:c.7349+655T>A
NT_007933.14:g.28358684A>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 ss35156715 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28423004 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
ss35156715SSAHASNP|TA-079.chr7_102769059fwd/A/Tgtaggtaccaccatgcctggctaattttttattttttttgtagagatggggtctcgctgt03/11/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28423004|allelePos=374|totalLen=651|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=125
 GAAATAGGAG TTTCTATCAA GATGTTAAAG CTTTCCTATA ATTAGCACCT AGTTTAGATG
 GTGAAAGAGA GAGTGTCATG TAACACTATT CCACTAGGCA AAGCTAATTC TCTGCTTTAC
 TCAAACAGGA GTGGAAATGC ACAGATAATT TAGATTTAAC TTCTTTATCA GAATTTACTA
 GGCAATTTTA TTTACTTTAA TTTTTAATTT TTTTTTTTGA GACAGGGTCT GGCTCTGACA
 CCCAAGCTGG AGTGCAGTGG CATGATCATA GCTCACTGCA TTCTCAAACT CCTGGGCTCT
 AGTGATCCTC CTGCCACAGC CTCCTGAGTG GCTGGGACTG CAGGTAGGTA CCACCATGCC
 TGGCTAATTT TTT
 W
 ATTTTTTTTG TAGAGATGGG GTCTCGCTGT TGTTTCCCAG GCTAGTCTTG AACTCCTAGT
 CTCAAGTGAT CCTTCCGTAC CAGGCAATTT TATTAAGCCC TGATCCCTTT CCATAGAGAC
 AAGAATGAAA GGTTTTTCAC ATAAAATAAT GCTTCAGGTG ATAATTCTCA AGATAATGTC
 CATAATAAAA TTTTAAAAGC AGACATAATT TAAAGGTACA TTTATTTGCT ACATTCATTT
 ATAGGACATC ACTCACTCCT ATATTTACAG CAGTCTC

  GeneView back to top
GeneView via analysis of contig annotation: RELN reelin
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_007933->NM_005045
function
referenceNT_007933->NM_173054
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007933->NM_005045->NP_00503628358684reverseintron
referenceNT_007933->NM_173054->NP_77495928358684reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs28423004 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
7NW_001839071.22811894097535574minusTalt_assembly_8HuRefHuRefview373
7NW_923640.174019497981443plusAalt_assembly_1CeleraCeleraview373
7NT_079596.22571514102535946plusAalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view373
7NT_007933.1428358684102962344plusAref_assemblyreferencereferenceview373

  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 .