Reference SNP(refSNP) Cluster Report: rs497423

Reference SNP(refSNP) Cluster Report: rs497423

refSNP ID: rs497423
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/T
Ancestral Allele:	C
Clinical Association:	unknown

HGVS Names
NM_001003794.1:c.233-7599A>G
NM_007283.5:c.263-7599A>G
NT_005612.15:g.33944154T>C

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss44403971 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs497423 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
ss667319	SC_JCM\|AC023593.8_142228	rev/T	A/G	caacagtctccacccctaccgggatataac	tgcaaagaaggagactggatgcagaaatct	07/27/00	10/10/03	83	Genomic	unknown
ss926576	KWOK\|OVLP-000804-270897	rev/T	A/G	caacagtctccacccctaccgggatataac	tgcaaagaaggagactggatgcagaaatct	09/01/00	10/10/03	86	Genomic	99 %
ss928164	KWOK\|OVLP-000804-279325	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	09/01/00	10/10/03	92	Genomic	99 %
ss1905763	KWOK\|OVLP-000925-446510	rev/T	A/G	caacagtctccacccctaccgggatataac	tgcaaagaaggagactggatgcagaaatct	10/06/00	10/10/03	92	Genomic	99 %
ss1905907	KWOK\|OVLP-000925-447539	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	10/06/00	05/16/04	92	Genomic	99 %
ss2562789	SC_JCM\|AC073357.3_108702	rev/T	A/G	caacagtctccacccctaccgggatataac	tgcaaagaaggagactggatgtagaaatct	11/03/00	10/10/03	92	Genomic	unknown
ss44403971	ABI\|hCV1038256	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	07/18/05	11/03/06	126	Genomic	unknown
ss67773658	ILLUMINA\|HumanHap650Yv1.0_rs497423	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	11/14/06	11/14/06	127	Genomic	unknown
ss71424007	ILLUMINA\|HumanHap650Yv3.0_rs497423	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	04/23/07	04/23/07	127	Genomic	unknown
ss75423035	ILLUMINA\|ILMN_Human_1M_rs497423	fwd/B	C/T	agatttctacatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	08/28/07	08/29/07	129	Genomic	unknown
ss78081162	HGSV\|Cor12878_SNV_20070510.chr3_128931706	fwd/B	C/T	agatttctgcatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	10/17/07	10/17/07	129	Genomic	unknown
ss81914674	HGSV\|Cor18956_SNV_20070510.chr3_128931706	fwd/B	C/T	agatttctgcatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	11/30/07	12/01/07	130	Genomic	unknown
ss92273678	BCMHGSC_JDW\|JWB-1662317	fwd/B	C/T	agatttctgcatccagtctccttctttgca	gttatatcccggtaggggtggagactgttg	02/26/08	03/02/08	129	Genomic	unknown

Fasta sequence (Legend)

 ATGCTTTGAC TCTGATGGTA ATGTAGGCAT CTCCTGGATA AACTGTTTCT GACTCTGGCT
 TCTTTCCAGA GCTACAGATC CATCCTGCCA ACCTGTGGTC AGACTCTCCT GGCTGTTCCA
 CAGCTCCTCA GATTGCTTGC AAATAATTGG CTCTCCTTCA CATAGCGGTT AAAGGCCCTG
 TGAGCCTTCC AAATTATTCA GGCTCAAAAC AGGGCTGTCG TCTTTGACTT TAATTCTATT
 TCTACATTCA ATTGGTCCCC AAGTCCTTCT AGATTTCTAC ATCCAGTCTC CTTCTTTGCA
 Y
 GTTATATCCC GGTAGGGGTG GAGACTGTTG CTGCCTTTGA ACTTACAGTA GCTTCTTCTC
 CAATCTCCCT GCCCAACCCC AGGCTCTCCA TGACCCACCT CCTCTTCCGG AAGCTGCTCT
 GATGGTGTCG TGGTCCGACG GCCCCCACTG TTTGAGAATG CAGCCTGCAC ATCCCAGCCC
 AGTATTCCCA GCCTCCCAGG AAGGCTTCTA CTTGTTCCTC TGCCACAATC TGAGCCACAT
 GCACACCCAC CTGCCCACGG TTCCTGAAGC ATACGCACAC GTTCCTGCCC TGTGCCTCTG

GeneView

GeneView via analysis of contig annotation: MGLL monoglyceride lipase

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_005612->NM_001003794

function

reference

NT_005612->NM_007283

function

HuRef

NW_001838883->NM_001003794

function

HuRef

NW_001838883->NM_007283

function

Celera

NW_921807->NM_001003794

function

Celera

NW_921807->NM_007283

function

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


reference	NT_005612->NM_001003794->NP_001003794	33944154	reverse	intron

reference	NT_005612->NM_007283->NP_009214	33944154	reverse	intron

HuRef	NW_001838883->NM_001003794->NP_001003794	577211	reverse	intron

HuRef	NW_001838883->NM_007283->NP_009214	577211	reverse	intron

Celera	NW_921807->NM_001003794->NP_001003794	34061501	reverse	intron

Celera	NW_921807->NM_007283->NP_009214	34061501	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs497423 maps exactly once on NCBI human chromosome 3

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
3	NW_001838883.1	577211	124829685	plus	C	alt_assembly_8	HuRef	HuRef	view	300
3	NW_921807.1	34061501	125875831	plus	T	alt_assembly_1	Celera	Celera	view	300
3	NT_005612.15	33944154	128931698	plus	T	ref_assembly	reference	reference	view	300

NCBI Resource Links

Submitter-Referenced
GenBank
AC073357 AC012406 AC023593 AC023593.9 AC073357 AC073357.2 AC073357.3

dbSNP Blast Analysis
GenBank HTGS Finished:	GenBank HTGS Draft:
AC023593.14 NC_000003.10	AC012406.3 AC073357.15

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	T/T	HWP	C	T
ss1905907	CEPH		93	AF					0.911	0.089

ss44403971	HapMap-CEU	European	120	IG	0.867	0.133		0.584	0.933	0.067

	HapMap-HCB	Asian	90	IG	0.800	0.200		0.479	0.900	0.100

	HapMap-JPT	Asian	90	IG	0.622	0.311	0.067		0.778	0.222

	HapMap-YRI	Sub-Saharan African	120	IG	0.650	0.350		0.150	0.825	0.175

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.238+/-0.250	270	210	0	0

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 .