Reference SNP(refSNP) Cluster Report: rs795875

Reference SNP(refSNP) Cluster Report: rs795875

refSNP ID: rs795875
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	86/129
Map to Genome Build:	36.3

Allele
Variation Class:	SNP: single nucleotide polymorphism
RefSNP Alleles:	C/G
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_004457.3:c.-148+2745G>C
NM_203372.1:c.-41+2745G>C
NT_005403.16:g.73964767G>C

Links

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1596807 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs795875 during BLAST analysis for the current build.

NCBI Assay ID	Handle\|Submitter ID	ss to rs Orientation /Strand	Alleles	5' Near Seq 30 bp	3' Near Seq 30 bp	Entry Date	Update Date	Build Added	Molecule Type	Success Rate
ss987970	KWOK\|OVLP-000804-623433	fwd/T	C/G	tctcaaaaataaacaaacaaacaaacaaat	tacccacctctctttcccccagggtgaaat	09/01/00	10/10/03	86	Genomic	99 %
ss1596807	KWOK\|OVLP-000925-315500	fwd/T	C/G	tctcaaaaataaacaaacaaacaaacaaat	tacccacctctctttcccccagggtgaaat	10/04/00	10/10/03	87	Genomic	99 %
ss3098179	TSC-CSHL\|TSC1198612	fwd/T	C/G	tctcaaaaataaacaaacaaacaaacaaat	tacccacctctctttcccccagggtgaaat	06/07/01	10/10/03	96	Genomic	unknown
ss3421928	SC_JCM\|AC016712.5_23910	rev/B	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	09/24/01	10/10/03	100	Genomic	unknown
ss3644474	SC_JCM\|AC016712.4_26592	rev/B	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	09/24/01	10/10/03	100	Genomic	unknown
ss14478151	WUGSC_SSAHASNP\|chr2.NT_005403.14_73964763	rev/B	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	11/05/03	11/22/03	119	Genomic	unknown
ss21646200	SSAHASNP\|WGSA-200403-chr2.chr2.NT_005403.14_73964763	rev/B	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	03/20/04	03/20/04	121	Genomic	unknown
ss24307046	PERLEGEN\|afd1425172	rev/B	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	08/10/04	09/13/04	123	Genomic	unknown
ss41706018	ABI\|hCV27153992	rev/	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	07/17/05	07/17/05	126	Genomic	unknown
ss85976992	HGSV\|Cor18956_SNV_20070510.chr2_223580856	rev/	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	11/30/07	12/10/07	130	Genomic	unknown
ss91562183	BCMHGSC_JDW\|JWB-1389889	rev/	C/G	atttcaccctgggggaaagagaggtgggta	atttgtttgtttgtttgtttatttttgaga	02/26/08	03/01/08	129	Genomic	unknown

Fasta sequence (Legend)

 TGAACTATTG GATTACTTAA TGACATCAAC CTGGCTCATG AATATTTGAG GATCTTCATA
 ATTCCAACTC AATCCAGCTA CGTACTACAT TTGGCATTAC ATGAACCTGT ACTAAGGAGA
 GTGAACAGAC AGCCTAATTT TTAAGTGAAG GTTGTGTTAG TTGAAGTAAC AAATTCACTT
 TTAAATATAC CTCTTTTCgg ccaggtacaa tggctcacgc ctgtaatccc aacactttgg
 gagactgaag tgggcagatc acttgaggcc aggagttcaa ggtcagcctg gccaacatgg
 agaaaccccg tctctattaa aaaatataaa aattagccag gtgtggtggt acgcacctgt
 aatcccagct acttgggagg ctgaggcaca agaatcacca gagtctggga ggcagaggtt
 gcagtgagcc aagattgcgc cactgcacct cagcctgggc cacagaccaa gactctgtct
 caaaaataaa caaacaaaca aacaaaT
 S
 TACCCACCTC TCTTTCCCCC AGGGTGAAAT AAAAAATAAA ATTAAAGAAA ATTCAAAGGC
 CAGAGGAAAA ATATAACAGT TCCAAACATA CAAAAAAAAA GTTAGCAAAA GTAAATCTAA
 TGAACAAAGT ATGCATATTT GAGAGAAGAC AGCTCTTCCG GTTATGTTTA ACCTTTGAGA
 ATGTAAAAGA ATTAAAGGTT

GeneView

GeneView via analysis of contig annotation: ACSL3 acyl-CoA synthetase long-chain family member 3

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_005403->NM_004457

function

reference

NT_005403->NM_203372

function

HuRef

NW_001838865->NM_004457

function

HuRef

NW_001838865->NM_203372

function

Celera

NW_921618->NM_004457

function

Celera

NW_921618->NM_203372

function

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


reference	NT_005403->NM_004457->NP_004448	73964767	forward	intron

reference	NT_005403->NM_203372->NP_976251	73964767	forward	intron

HuRef	NW_001838865->NM_004457->NP_004448	2750299	reverse	intron

HuRef	NW_001838865->NM_203372->NP_976251	2750299	reverse	intron

Celera	NW_921618->NM_004457->NP_004448	28438119	forward	intron

Celera	NW_921618->NM_203372->NP_976251	28438119	forward	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs795875 maps exactly once on NCBI human chromosome 2

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
2	NW_001838865.2	2750299	215609477	plus	G	alt_assembly_8	HuRef	HuRef	view	507
2	NW_921618.1	28438119	217523589	minus	C	alt_assembly_1	Celera	Celera	view	507
2	NT_005403.16	73964767	223463595	minus	G	ref_assembly	reference	reference	view	507

NCBI Resource Links

Submitter-Referenced
GenBank
NT_005403 AC013476 AC016712.3

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC013476.9 NC_000002.10	AC209008.1

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/G	G/G	HWP	C	G
ss24307046	AFD_EUR_PANEL	European	46	IG	0.304	0.304	0.391	0.100	0.457	0.543

	AFD_AFR_PANEL	African American	46	IG	0.261	0.348	0.391	0.200	0.435	0.565

	AFD_CHN_PANEL	Asian	48	IG	0.042	0.417	0.542	0.655	0.250	0.750

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.471+/-0.118	71	50	0	0

Validation Summary:

Validation status

Marker displays
Mendelian segregation

PCR results confirmed
in multiple reactions

Homozygotes detected
in individual genotype data

DoubleHit found by: BCM_SSAHASNP, NCBI

UNKNOWN

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Revised: May 25, 2006 1:38 PM .