Reference SNP(refSNP) Cluster Report: rs7894291

Reference SNP(refSNP) Cluster Report: rs7894291

refSNP ID: rs7894291
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	116/129
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_004092.2:c.89-376G>A
NT_017795.18:g.1457110C>T

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss12060891 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7894291 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
ss12060891	WI_SSAHASNP\|chr10.NT_017795.15_340216		fwd/B	C/T	ccgtctctacctaaaatacaaaaaattagt	gggtgttgtggcgggcgcctgtagtcccag	07/04/03	10/10/03	116	Genomic			unknown

Fasta sequence (Legend)

 GGTATCAAAC TGGGGAGAGT GGGGGAAGGG ATGTGGCCCC ATCGGTGGAT ACAGTGTGAC
 CCCAAGAGGC CCTCTGAGGG CTCCCTGCCG AGTCCTCAGT GGCTCCAGGT GTAGCTCTCA
 GCCACAAGGA TAGATGGTAG CCTTGGTACC ATTCTCTCTG CTTTCACATG TGTTTGAACA
 TGTCCTAAAG AAAATCCCCG ggccgggcgc ggtggctcac gcctgtaatc ccagcaattt
 gggaggccga agcggtcgaa tcacaaggtc aggagatcga gaccatcctg gctaacacgg
 tgaaacgccg tctctaccta aaatacaaaa aattagt
 Y
 gggtgttgtg gcgggcgcct gtagtcccag ctactgggga ggctgaggca ggagagtggc
 atgaacccag gaggtggagc ttgcagtgag ctgagatcat gccactgcac tccagcctgg
 gtgacagagt gagactccgt ctcaaaaaaa aagaaaagaa aaaaagaaaa aTCCCCAGCA
 CAGAACACAG CCCACAGCCG CTTTCCTTCT CCTAATATGC CTTGGTCAGC TCTTCCCAGG
 ACACCACTCT GGAGACAGCC CTGGACTCTG CTGAGACAAG GCACCAGGAA ACACCTTCTT
 TCAACAAATG CCAACAGGTG AGGGGGTGTA AGGCAGCTCC TTGCACTTGG TACCGCCCCA
 GTGCCAAGAC C

GeneView

GeneView via analysis of contig annotation: ECHS1 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial

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_017795->NM_004092

function

HuRef

NW_001838014->NM_004092

function

Celera

NW_924907->NM_004092

function

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


reference	NT_017795->NM_004092->NP_004083	1457110	reverse	intron

HuRef	NW_001838014->NM_004092->NP_004083	1767996	reverse	intron

Celera	NW_924907->NM_004092->NP_004083	248444	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs7894291 maps exactly once on NCBI human chromosome 10

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
10	NW_924907.1	248444	128332987	minus	G	alt_assembly_1	Celera	Celera	view	337
10	NW_001838014.1	1767996	128728719	plus	C	alt_assembly_8	HuRef	HuRef	view	337
10	NT_017795.18	1457110	135034627	plus	C	ref_assembly	reference	reference	view	337

NCBI Resource Links

Submitter-Referenced
GenBank
NT_017795

dbSNP Blast Analysis
GenBank HTGS Finished:
AL360181.37

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 .