Reference SNP(refSNP) Cluster Report: rs8192868

Reference SNP(refSNP) Cluster Report: rs8192868

refSNP ID: rs8192868
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	117/129
Map to Genome Build:	36.3

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

HGVS Names
NM_001061.2:c.1348G>A
NM_030984.1:c.1348G>A
NP_001052.1:p.E450K
NP_112246.1:p.E450K
NT_007914.14:g.307192G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss52056760 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8192868 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
ss12587734	RIKENSNPRC\|ssj0008674	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	08/06/03	10/10/03	117	Genomic	unknown
ss22886374	IMCJ-GDT\|IMCJ-TBXAS1_11-AG	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	03/22/04	03/22/04	121	Genomic	unknown
ss52056760	SI_EXO\|NT_007914.14_307193	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	03/29/06	03/29/06	127	Genomic	unknown
ss69030194	PERLEGEN\|PGP04754313	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	01/30/07	03/31/08	127	Genomic	unknown
ss75271056	ILLUMINA\|ILMN_Human_1M_rs8192868	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	08/28/07	08/29/07	129	Genomic	unknown
ss84164580	PHARMGKB_AB_DME\|PS206112_PA149919519_301	fwd/T	A/G	caccatgaccctgagcactggccaagcccg	agaccttcaaccctgaaaggtgagtactgc	12/06/07	12/10/07	130	Genomic	unknown

Fasta sequence (Legend)

 CAAATGGATG CATGAAGGGA TGGATGAGTA CATTTTCATC AAGGACCAAG TGAGCCTAGC
 CTCGGGGCTG CAGGCTCCTG GGCAGTGAGT GGTAATGGGG TAGGGGCTTG GTCACCCTGG
 GAAGGGGGCT GAGCAGGGGG TCCTCTGTCC CCAGCCTCAT TCCACACACC ATGCTGCCTG
 CCCCTGATCC CCTTCACACT CAGACTCTGC CTGCCCAGCA CGCCCCAAGC TCTGCTCCTC
 ATCTCTTCTC TGTATCCACC CCCGACCTGG TGTTTCCCTC AGATTCACAC GGGAGGCAGC
 TCAGGACTGC GAGGTGCTGG GGCAGCGCAT CCCCGCAGGC GCTGTGCTAG AGATGGCCGT
 GGGTGCCCTG CACCATGACC CTGAGCACTG GCCAAGCCCG
 R
 AGACCTTCAA CCCTGAAAGG TGAGTACTGC CCCTTTTAAA AAGCTCTGAA GGGATGTGAG
 TGTGTGGGAT AGAAATTTAC CAGTGGAGGC AGCAGCCGGG AGGCACAGAC TTAGCAAAAT
 TGTCCCCAAA TAGTCAAAAG TTATGGCAAT TCAGATAGAT GTTTGCAAGA CATAATTTCC
 AAAGGAAATA ATTATACCAT TTTTTAGCCA CGCGTGGTGG CTCATGCCTG TAATCCCAGC
 ACTTTGGGAG GCCAAGGTGG GCAGATCACG AGGTCAGGAG ATCGAGACCA TCCTGGCTAA
 CACGGTGAAA CCCCATCTCT ACTAAAAATA CAAAAACTTA GCTGGGCGTG GTGGCGGGCG
 CCTGTAGTCC CAGCTACTTG GGAGGCTGAG GCAGGAGAAT

GeneView

GeneView via analysis of contig annotation: TBXAS1 thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A)

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_007914->NM_001061

function

reference

NT_007914->NM_030984

function

HuRef

NW_001839073->NM_001061

function

HuRef

NW_001839073->NM_030984

function

Celera

NW_923640->NM_001061

function

Celera

NW_923640->NM_030984

function

CRA_TCAGchr7v2

NT_079596->NM_001061

function

CRA_TCAGchr7v2

NT_079596->NM_030984

function

Group label	Contig-->mRNA-->Protein	Contig position	mRNA orientation	mRNA pos	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos


reference	NT_007914->NM_001061->NP_001052	307193	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

reference	NT_007914->NM_030984->NP_112246	307193	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

HuRef	NW_001839073->NM_001061->NP_001052	309913	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

HuRef	NW_001839073->NM_030984->NP_112246	309913	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

Celera	NW_923640->NM_001061->NP_001052	37196237	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

Celera	NW_923640->NM_030984->NP_112246	37196237	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

CRA_TCAGchr7v2	NT_079596->NM_001061->NP_001052	39080048	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

CRA_TCAGchr7v2	NT_079596->NM_030984->NP_112246	39080048	forward	1583	missense	A	Lys [K]	1	450
					contig reference	G	Glu [E]	1	450

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs8192868 maps exactly once on NCBI human chromosome 7

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
7	NW_001839073.1	309913	134009460	plus	G	alt_assembly_8	HuRef	HuRef	view	400
7	NW_923640.1	37196237	134437486	plus	G	alt_assembly_1	Celera	Celera	view	400
7	NT_079596.2	39080048	139044480	plus	G	alt_assembly_2	CRA_TCAGchr7v2	CRA_TCAGchr7v2	view	400
7	NT_007914.14	307193	139362110	plus	G	ref_assembly	reference	reference	view	400

NCBI Resource Links

Submitter-Referenced
GenBank
NT_007914.14

dbSNP Blast Analysis
GenBank HTGS Finished:
AC004961.2 NC_000007.12

UniGene Cluster ID
520757

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/G	G/G	HWP	A	G
ss69030194	HapMap-CEU	European	120	GF	0.067	0.933		0.033	0.967

	HapMap-HCB	Asian	90	GF		1.000			1.000

	HapMap-JPT	Asian	90	GF	0.089	0.911		0.044	0.956

	HapMap-YRI	Sub-Saharan African	120	GF		1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.037+/-0.131	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 .