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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4696744          
refSNP ID: rs4696744
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
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_032432.3:c.763+216G>A
NT_006051.17:g.4149922C>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 ss44500943 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4696744 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
ss6468967WI_SSAHASNP|NT_006307.12_175946fwd/BC/Tggctcggcccttttcctttcttgctggtctgggctcgctgagatcattggacagacaagg02/12/0310/10/03111Genomicunknown
ss17801470CSHL-HAPMAP|CSHL-HuCC-200402.chr4.NT_006307.15_175946fwd/BC/Tggctcggcccttttcctttcttgctggtctgggctcgctgagatcattggacagacaagg02/19/0403/04/04120Genomicunknown
ss22051840SSAHASNP|WGSA-200403-chr4.chr4.NT_006307.15_175946fwd/BC/Tggctcggcccttttcctttcttgctggtctgggctcgctgagatcattggacagacaagg03/20/0403/20/04121Genomicunknown
ss44500943ABI|hCV11283723fwd/BC/Tggctcggcccttttcctttcttgctggtctgggctcgctgagatcattggacagacaagg07/19/0507/19/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4696744|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGGGCTGGCT CTTCCCTTGC TCCTAGAAGA AAGCCTCGGC TGCTGCCAGT GACCCTCAGT
 ACCTCATTAC CAACCTCCTT TGTGGACAGA GGGGTTGCAG CAGGCTGGGG TGGCTGGGGC
 GGGAAACACC TAAAACTCCT AACTTGGACT CCCTGAGCTG GGGCGGCTTT CTAGAAGGGG
 CCTAAAGTGG CGACGGATGT GATCAGGCCG TATTTGTTTA AGCTTTGCTA CTTGGAGCCA
 AATAGCCAGC ACTTCTGGGT GCTGGTCTTT GGCTCGGCCC TTTTCCTTTC TTGCTGGTCT
 Y
 GGGCTCGCTG AGATCATTGG ACAGACAAGG CAGGCTGACG AGGCTGGCCT GGCACGTGCC
 ACCGCCCTGC CCTGCCGGCT CCCCGCTGTG GCTGGGCTGC TCGTGACCTA GCGAGATGAC
 ACTGTCACCA ACCTGTTCAC ACCCAGCATG TGTGTGGACC TCGAAGAGGG TAGTTCCTTG
 CTCTAGGGGA CCAAACAACA CATTTTAATT CATACCTTGA AGATACATCT CTTCGCCTTC
 TGCAAACATC TGGCCGCACC TGACACATAG CGCGCAGGAA GGGTGGTAGT GCTTCTCTCC

  GeneView back to top
GeneView via analysis of contig annotation: ABLIM2 actin binding LIM protein family, member 2
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_006051->NM_032432
function
HuRefNW_001838899->NM_032432
function
CeleraNW_921918->NM_032432
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006051->NM_032432->NP_1158084149922reverseintron
HuRefNW_001838899->NM_032432->NP_115808194874reverseintron
CeleraNW_921918->NM_032432->NP_1158087962186reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4696744 maps exactly once on NCBI human chromosome 4
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
4NW_921918.179621867962186plusCalt_assembly_1CeleraCeleraview300
4NW_001838899.11948747982226plusTalt_assembly_8HuRefHuRefview300
4NT_006051.1741499228113378plusCref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006307
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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .