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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs314349          
refSNP ID: rs314349
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:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_004444.4:c.2835-613A>C
NT_007933.14:g.25636101T>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 ss1841431 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs314349 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
ss403231KWOK|OVLP-000621-251986rev/BG/Tttttgttttgtagagatggggttttgctatttggccaggctgctctcaaactcctgggct06/30/0010/10/0379Genomic99 %
ss1010653KWOK|OVLP-000804-186959fwd/TA/Cagcccaggagtttgagagcagcctggccaaatagcaaaaccccatctctacaaaacaaaa09/02/0010/10/0386Genomic97 %
ss1841431KWOK|OVLP-000925-651947fwd/TA/Cagcccaggagtttgagagcagcctggccaaatagcaaaaccccatctctacaaaacaaaa10/05/0010/10/0387Genomic97 %
ss2438055SC_JCM|AC009488.3_145862fwd/TA/Cagcccaggagtttgagagcagcctggccaaatagcaaaaccccatctctacaaaacaaaa11/03/0010/10/0392Genomicunknown
ss22543873SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_25635409rev/BG/Tttttgttttgtagagatggggttttgctatttggccaggctgctctcaaactcctgggct03/21/0403/21/04121Genomicunknown
ss22920326SSAHASNP|AACC-200403.chr7.NT_007933.13_25635409rev/BG/Tttttgttttgtagagatggggttttgctatttggccaggctgctctcaaactcctgggct03/22/0403/22/04121Genomicunknown
ss42906804ABI|hCV2868082rev/BG/Tttttgttttgtagagatggggttttgctatttggccaggctgctctcaaactcctgggct07/18/0507/18/05126Genomicunknown
ss78281880HGSV|Cor12878_SNV_20070510.chr7_100046476rev/BG/Tttttgttttgtagagatggggttttgctatttggccaggctgctctcaaactcctgggct10/17/0710/18/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs314349|allelePos=599|totalLen=1193|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=129
 GGGCTAGGTT TTGGAGATCC TCTTCAGCTT TTATGTGAAA TGGTTTTATG ATTCCTTGCC
 TCCCAAAGGC TGCGTATCCC CACTTGGCCT TTGTCTGCTA CTCCCCCTTT CTGCCTTCCC
 GTTCCTCTCC CAAGATCTCC TCTCACCCCA GGTTGAATAA CAGAAATAGA AGGAATAGAA
 ATCTGAAggc cgggcatggt ggctcatgcc tgtaatgcca gcactttggg aggccgaggt
 gggcagatca cttgaggtta ggagttcgag accattgtgg acaacttggt gaaaccttat
 gtctactaaa aatacaaaaa ttagctgggc atggtggtgc gtgcctgtaa taccagctac
 tgaggaggct gaggcaggag aatcgcttga acccgggagg tggaggttgc agtgagccga
 gatcgcacca ctgcactcca gcctggatga cagagtgaaa ttccatctca aaaaaaaaaa
 aaaaaaaaaa aaagaaaTGT GAAggccagg tggtggctca cgcctgtaat ctcagcactt
 tgggaggctc aggtggaccg attgcttgag cccaggagtt tgagagcagc ctggccaa
 M
 atagcaaaac cccatctcta caaaacaaaa acaaaaaaat tagctgggca tggtggtgcg
 tgcctgtggt cccagctact caggaggcta gagccagagg gtcTCAGGCC AGTCTGCCCC
 TGCCCCACGG GGCCTGGGCA CATCCCTCCC TAATTCTTCC CAGCCTCTCT CTGACCCAGG
 GGGCCTCCTC TCCCTTTTTT CCCCTTATCT CAGCCTCCAG CCATCAGCAA CCTcctcttc
 ctctccaccc agctcttcct ctcccacttc ggccttttct ttctcacact ccatttccct
 ctACGGCAAT CTGTGCAGCC TCTTCCCCCA GTCTCATTTT GCGGGCTTTT CTCTCTTTTC
 TTTCCTTCCC TGGCACCCAA GCCAAAGGCC CCGCCTCTGG CCTCCAGCCC TACCCCCTTC
 TGCGGTTGCA CAGAAGGATG GCTGCCCAGC TCTTAAAAAA ACTGCCCGGG AACTGTTGAC
 ATCTGTTCTC CCTCCCCCGC TGGCTTTTCT GATTGGCTTA CAATCCTGAG GCTAGGACCG
 TCTCAGGAGC CAAGCGAGGA GAGCGGCCAC AGGGAACCTA GGGTCTCACC AAGC

  GeneView back to top
GeneView via analysis of contig annotation: EPHB4 EPH receptor B4
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_004444
svfunction
HuRefNW_001839065->NM_004444
svfunction
CeleraNW_923574->NM_004444
svfunction
CRA_TCAGchr7v2NT_079595->NM_004444
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007933->NM_004444->NP_00443525636101reverseintron
HuRefNW_001839065->NM_004444->NP_004435122679forwardintron
CeleraNW_923574->NM_004444->NP_00443523671416reverseintron
CRA_TCAGchr7v2NT_079595->NM_004444->NP_00443525662642reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs314349 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_001839065.212267995032565plusCalt_assembly_8HuRefHuRefview598
7NW_923574.12367141695132379minusTalt_assembly_1CeleraCeleraview598
7NT_079595.22566264299761430minusTalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view598
7NT_007933.1425636101100239761minusTref_assemblyreferencereferenceview598

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933 AC011895 AC011895.4
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC011895.4 NC_000007.12 AC084057.1

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .