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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs567601          
refSNP ID: rs567601
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001013845.1:c.-162-25C>G
NT_011726.13:g.20318G>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 ss738845 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs567601 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
ss738845SC_JCM|U66083.1_39002fwd/TC/Gggacagctagaggaaggcacaggcaggatacatgtggtcagtgctatgacagaggtcacc07/27/0010/10/0383Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs567601|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=83
 GACCTTCCCC CCGTGTCTCT CAGGTGGCCT AAATCGCACT GACCTTGATG GTCTGCTGCT
 TCCGTCTGTC ACTGATGTCG AGCACCACAG CAGGCCCAAG GGAAGGGGCT AGGATTCGGC
 TGACTCAGGT CCATCCCATG GAGTCTTTGG GGCGGTCCGG AGTAGGGCGG GGACAGCTAG
 AGGAAGGCAC AGGCAGGATA
 S
 CATGTGGTCA GTGCTATGAC AGAGGTCACC GAGCCCTAGG GCAACACAGA GGACAGAGGG
 CCCCCTCGGC CTAGCCAGAG CGGAGAGTCG GGGCTGGTGT TAGCCCTCTT CCAGCACAGA
 GGGACAGTCC CACGCTCTGC TTCTCTTCCC TTTCCCCTGC TGTGCCCTGC CAATACTCTC
 AGTGCCCTGG CCCTGCCGCC

  GeneView back to top
GeneView via analysis of contig annotation: CXorf40B chromosome X open reading frame 40B
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_011726->NM_001013845
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011726->NM_001013845->NP_00101386720318reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs567601 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842412.2100151137580291plusGalt_assembly_8HuRefHuRefview200
XNT_011726.1320318148853038plusGref_assemblyreferencereferenceview200
XNW_927727.12723670148975607minusCalt_assembly_1CeleraCeleraview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
U66083 AF011889
dbSNP Blast Analysis
GenBank HTGS Finished:
BX927209.6

  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 .