Reference SNP(refSNP) Cluster Report: rs17847054

Reference SNP(refSNP) Cluster Report: rs17847054

refSNP ID: rs17847054
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	123/129
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_004436.2:c.184-7C>T
NM_207042.1:c.232-7C>T
NM_207043.1:c.232-7C>T
NM_207044.1:c.184-7C>T
NM_207045.1:c.220-7C>T
NM_207046.1:c.172-7C>T
NM_207047.1:c.172-7C>T
NT_004487.18:g.1088646G>A

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss28501356 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17847054 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	Validation Status	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Freq Warning	Ancestral Allele	Success Rate
ss28501356	IMCJ-GDT\|IMCJ-ENSA_3-CT		fwd/B	C/T	agtcctcactcacctaaacctccctcttat	tcttagcaaaagtactttgactcaggagac	08/20/04	08/20/04	123	Genomic			unknown

Fasta sequence (Legend)

 ACCTGAAAAA GTCAGAACAC ACTGGGGAGA AGACATAAGT ACATGTAATT AATGTTAAAC
 TGTGTATGCA TGAGGTTAAT CAAGGAAGAC TTCTTGAAAG ATCCGAGTGT GCATGAGGGT
 TTATAATGGA TGTGAGATGT GAGTCTCCTT GTTTTTGAGG AAGGCCAGAG TCCTCACTCA
 CCTAAACCTC CCTCTTAT
 Y
 TCTTAGCAAA AGTACTTTGA CTCAGGAGAC TACAACATGG CCAAAGCCAA GATGAAGAAT
 AAGCAGCTGC CAAGTGCAGG ACCAGACAAG AACCTGGTGA CTGGTGATCA CATCCCCACC
 CCANAGGATC TGCCCCAGAG AAAGTCCTCG CTCGTCACCA GCAAGCTTGC GGGGTAACCT
 GAGCCCCCCT CTC

GeneView

GeneView via analysis of contig annotation: ENSA endosulfine alpha

View variations for gene:

Include clinically associated:

in gene region cSNP has frequency double hit

Group
Label

Contig->mRNA

Gene Model (contig mRNA transcript) Color Legend

reference

NT_004487->NM_004436

function

reference

NT_004487->NM_207042

function

reference

NT_004487->NM_207043

function

reference

NT_004487->NM_207044

function

reference

NT_004487->NM_207045

function

reference

NT_004487->NM_207046

function

reference

NT_004487->NM_207047

function

reference

NT_004487->NM_207168

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	Function


reference	NT_004487->NM_004436->NP_004427	1088646	reverse	intron

reference	NT_004487->NM_207042->NP_996925	1088646	reverse	intron

reference	NT_004487->NM_207043->NP_996926	1088646	reverse	intron

reference	NT_004487->NM_207044->NP_996927	1088646	reverse	intron

reference	NT_004487->NM_207045->NP_996928	1088646	reverse	intron

reference	NT_004487->NM_207046->NP_996929	1088646	reverse	intron

reference	NT_004487->NM_207047->NP_996930	1088646	reverse	intron

reference	NT_004487->NM_207168->NP_997051	1088646	reverse	3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs17847054 maps exactly once on NCBI human chromosome 1

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
1	NW_001838529.1	793959	121976128	minus	G	alt_assembly_8	HuRef	HuRef	view	198
1	NW_925683.1	750866	123714040	minus	G	alt_assembly_1	Celera	Celera	view	198
1	NT_004487.18	1088646	148864915	minus	G	ref_assembly	reference	reference	view	198

NCBI Resource Links

Submitter-Referenced

dbSNP Blast Analysis
GenBank HTGS Finished:
AL356356.17

Population Diversity

There is no frequency data.

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	UNKNOWN	UNKNOWN

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Revised: May 25, 2006 1:38 PM .