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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4074020          
refSNP ID: rs4074020
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:108/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NT_004350.18:g.1075606C>T
XM_001717735.1:c.*247G>A
Links , Linkout

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 ss44116276 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4074020 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
ss5453297TSC-CSHL|TSC0133216fwd/TA/Ggactgtgtccgccgagcccatccccgtgtatgtgaaaacagcctctgaggctcccatgct09/21/0210/10/03108Genomicunknown
ss5821195SC_JCM|NT_004350.12_1146652rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc01/10/0310/10/03111Genomicunknown
ss9889900BCM_SSAHASNP|chr1.NT_077964.1_172922rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc06/27/0310/10/03116Genomicunknown
ss15432855SC_SNP|NT_077964.2_134352rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc11/14/0311/22/03120Genomicunknown
ss20569101SSAHASNP|WGSA-200403-chr1.chr1.NT_077964.2_134352rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc03/18/0403/18/04121Genomicunknown
ss35133567SSAHASNP|TA-079.chr1_random_1295541rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc03/11/05125Genomicunknown
ss44116276ABI|hCV26822475fwd/TA/Ggactgtgtccgccgagcccatccccgtgtatgtgaaaacagcctctgaggctcccatgct07/18/0507/18/05126Genomicunknown
ss87160957BCMHGSC_JDW|JWB-0000883rev/BC/Tagcatgggagcctcagaggctgttttcacatacacggggatgggctcggcggacacagtc02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4074020|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CCAGACGACA CAGTGGAGCC GCTGCTTCCA CAGGACCCCA GGCAGCATCC CTGAGAGCAG
 GAAGCTGCCA GCTGCTGCTG TCCTCGTGAC ACTGCATCCC CCAGAAATGG GCAGGGACGC
 CCTCCTCCAT GGCCCTGCTG GGGTGCAGGA CATGGGGAGC TAAGTTGGCC ATTGCCTGCG
 GCTTTCTCGG TTTGTCGGTG AAGACCAGCA GAAACTCAAA CTGGGGATTC CAGGTATCAG
 CTTCCTGGAG TAGAGACCAG ACCAGTAGCT GACTGTGTCC GCCGAGCCCA TCCCCGTGTA
 R
 TGTGAAAACA GCCTCTGAGG CTCCCATGCT GGGGGTGCCC ACTTCCTCTC TGGGCGACAC
 CCCAGGGTCC ACCGGGAGCC AGAGGTGGGT CCAGTGCCAA CGAGAGCCGC TCCCTGCCAC
 AGCCAAGAGA GCCCTCGGCT TCCCACACCA GCCATCGAAG GCCCTGAGGC CCTGGACCGG
 CGGCAGACTG GCCCTGGGCA TGAGGCCACA GAGCAGGGCC GAAGGGAGGG GACAGAGGGC
 CCTGGAAGGA AGGGTCTCCT GCTGCCACGG TGGGCACTCA GAACTTCTCC CCACCTGACC

  GeneView back to top
GeneView via analysis of contig annotation: RP11-345P4.4 similar to solute carrier family 35, member E2
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_004350->XM_001717735
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004350->XM_001717735->1075606reverse19363' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4074020 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838585.1854625873872minusTalt_assembly_8HuRefHuRefview300
1NW_921350.1980358980358plusAalt_assembly_1CeleraCeleraview300
1NT_004350.1810756061586837minusCref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077964
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank mRNA:
NM_001110781.1 AL691432.53 AB007916.3 BC110653.1 CR936618.1
UniGene Cluster ID
551612

  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 .