Reference SNP(refSNP) Cluster Report: rs691094

Reference SNP(refSNP) Cluster Report: rs691094

refSNP ID: rs691094
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:	A/G
Ancestral Allele:	G
Clinical Association:	unknown

HGVS Names
NM_173628.2:c.12387+26C>T
NT_010641.15:g.10351448G>A

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss1503104 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs691094 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
ss864867	SC_JCM\|AC061992.2_119332	rev/B	C/T	acaaggtaaggatgacaagttaaacaggag	tcaacgtaatgaaggctcgtgcctcccggt	07/28/00	10/10/03	83	Genomic	unknown
ss1503104	TSC-CSHL\|TSC0341980	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	09/07/00	04/07/04	92	Genomic	95 %
ss3231376	YUSUKE\|IMS-JST041461	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	09/05/01	10/10/03	100	Genomic	unknown
ss66624221	ILLUMINA\|HumanHap300v1.1_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	11/09/06	11/09/06	127	Genomic	unknown
ss67515408	ILLUMINA\|HumanHap550v1.1_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	11/14/06	11/14/06	127	Genomic	unknown
ss67880505	ILLUMINA\|HumanHap650Yv1.0_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	11/14/06	11/14/06	127	Genomic	unknown
ss69203283	PERLEGEN\|PGP04338730	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	01/30/07	08/14/07	127	Genomic	unknown
ss70895116	ILLUMINA\|HumanHap550v3.0__rs691094	rev/B	C/T	acaaggtaaggatgacaagttaaacaggag	tcaacgtaatgaaggctcgtgcctcccggt	04/20/07	03/31/08	130	Genomic	unknown
ss71489096	ILLUMINA\|HumanHap650Yv3.0_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	04/23/07	04/23/07	127	Genomic	unknown
ss74828748	AFFY\|SNP_M-585376	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	08/09/07	08/09/07	128	Genomic	unknown
ss75476133	ILLUMINA\|ILMN_Human_1M_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	08/28/07	08/29/07	129	Genomic	unknown
ss78089566	HGSV\|Cor12878_SNV_20070510.chr17_73936771	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	10/17/07	10/17/07	129	Genomic	unknown
ss79238424	ILLUMINA\|HumanHap300v2.0_rs691094	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	04/18/07	11/18/07	130	Genomic	unknown
ss83518991	KRIBB_YJKIM\|KHS480596	fwd/T	A/G	accgggaggcacgagccttcattacgttga	ctcctgtttaacttgtcatccttaccttgt	12/04/07	12/05/07	130	Genomic	unknown

Fasta sequence (Legend)

 CTTCTTCCAA GTGAGACGCA TTTCTCATCC TCTCTTATTT TGGCTGCCTG GGTTCTTGCT
 CAATTATTGA CACTCCATTT GTGCTGGCAG GCTCTCACCG GGAGGCACGA GCCTTCATTA
 CGTTGA
 R
 CTCCTGTTTA ACTTGTCATC CTTACCTTGT AGTCCAGGTT GGGGGGGATC TGAAAGCCGG
 GGGCCAGCAG GACGTCTCCC TCCAGCATCT CCGTCCGGAT GTATTCAGCC AGGTAGGTCC
 TGCACAGCCG ACGGTCCCAG TCATCTGTGA TGTGGCCGCC ATACATGATT TCACCAAAAA
 GGTAGCGGAG ATCGTCCCAG GGCACCTGAG GAAGGATGAC AGCGGGTAGG GGAAAGTGCC
 CCTGTGCCCC TTCTCTGCCA TGAGAGGGTC AGGCTCAGGC AGGCAGGGCG TGGGAACCCA
 GCCTTTGGTG CTGCATCCTT CTCGCCCTCC AGGTCAGCCT CCTGGCCATT TACCTTCAGG
 GTCACCAGGC CCCAGGGCCA CCTTTCTTTC CATCCCGCGC CACCAGACGC CAATGTCCGG
 CCCCTTTGGC TTCTCTCCCA AGGGGCTGTG TGGCACCTCC CTCCACCTTG GACAG

GeneView

GeneView via analysis of contig annotation: DNAH17 dynein, axonemal, heavy chain 17

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_010641->NM_173628

function

HuRef

NW_001838455->NM_173628

function

Celera

NW_926918->NM_173628

function

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


reference	NT_010641->NM_173628->NP_775899	10351448	reverse	intron

HuRef	NW_001838455->NM_173628->NP_775899	1127595	forward	intron

Celera	NW_926918->NM_173628->NP_775899	13524772	reverse	intron

GeneView: no link established by BLAST analysis of mRNA sequences

Integrated Maps:

NCBI MapViewer: rs691094 maps exactly once on NCBI human chromosome 17

Chromosome	Contig accession	Contig position	Chromosome position	Hit orientation	Contig Allele	Assembly Type	Group label	Contig label	Neighbor SNP	SNP_flank position
17	NW_001838455.2	1127595	71847681	minus	C	alt_assembly_8	HuRef	HuRef	view	126
17	NW_926918.1	13524772	73019371	plus	G	alt_assembly_1	Celera	Celera	view	126
17	NT_010641.15	10351448	73936771	plus	G	ref_assembly	reference	reference	view	126

NCBI Resource Links

Submitter-Referenced
GenBank
NC_000017.9 AC016182 AC061992.2

dbSNP Blast Analysis

Population Diversity

	Sample Ascertainment				Genotype Detail				Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	A/A	A/G	G/G	HWP	A	G
ss1503104	CEPH		184	AF					0.650	0.350

	HapMap-CEU	European	120	IG	0.067	0.367	0.567	1.000	0.250	0.750

	HapMap-HCB	Asian	90	IG		0.089	0.911	1.000	0.044	0.956

	HapMap-JPT	Asian	90	IG	0.022	0.022	0.956	0.001	0.033	0.967

	HapMap-YRI	Sub-Saharan African	120	IG		0.117	0.883	0.655	0.058	0.942

ss3231376	JBIC-allele		1502	AF					0.015	0.985

ss69203283	HapMap-CEU	European	120	GF		0.300	0.700		0.150	0.850

	HapMap-HCB	Asian	90	GF		0.089	0.911		0.044	0.956

	HapMap-JPT	Asian	90	GF		0.044	0.956		0.022	0.978

	HapMap-YRI	Sub-Saharan African	120	GF		0.050	0.950		0.025	0.975

Concordant Genotype	Total Sample	A/A	A/G	G/G
ss1503104	242		26	216
ss69203283	242		26	216

RefSNP Genotype Summary	Total Individual	A/A	A/G	G/G
rs691094	270		26	216

Discordant Genotypes:
Indiviudal SampleID	SubSNP(ss)	Genotype	Population Handle	Submitter Population	Submitter SampleID	SampleID Alias	Submission Batch	NCBI ProbeID
162	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA07019	CEPH1340.02	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
162	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA07019	CEPH1340.02	chr17-HapMap-CEU
170	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA07000	CEPH1340.10	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
170	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA07000	CEPH1340.10	chr17-HapMap-CEU
171	ss1503104	A/A	CSHL-HAPMAP	HapMap-CEU	NA07022	CEPH1340.11	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
171	ss69203283	A/G	CSHL-HAPMAP	HapMap-CEU	NA07022	CEPH1340.11	chr17-HapMap-CEU
200	ss1503104	A/A	CSHL-HAPMAP	HapMap-CEU	NA12057	CEPH1344.13	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
200	ss69203283	A/G	CSHL-HAPMAP	HapMap-CEU	NA12057	CEPH1344.13	chr17-HapMap-CEU
213	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA07357	CEPH1345.12	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
213	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA07357	CEPH1345.12	chr17-HapMap-CEU
239	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA11882	CEPH1347.15	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
239	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA11882	CEPH1347.15	chr17-HapMap-CEU
254	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA10856	CEPH1350.01	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
254	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA10856	CEPH1350.01	chr17-HapMap-CEU
262	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA11829	CEPH1350.10	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
262	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA11829	CEPH1350.10	chr17-HapMap-CEU
335	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12707	CEPH1358.01	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
335	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12707	CEPH1358.01	chr17-HapMap-CEU
344	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12716	CEPH1358.11	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
344	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12716	CEPH1358.11	chr17-HapMap-CEU
408	ss1503104	A/A	CSHL-HAPMAP	HapMap-CEU	NA12154	CEPH1408.10	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
408	ss69203283	A/G	CSHL-HAPMAP	HapMap-CEU	NA12154	CEPH1408.10	chr17-HapMap-CEU
464	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12003	CEPH1420.09	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
464	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12003	CEPH1420.09	chr17-HapMap-CEU
535	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12750	CEPH1444.13	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
535	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12750	CEPH1444.13	chr17-HapMap-CEU
546	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12761	CEPH1447.10	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
546	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12761	CEPH1447.10	chr17-HapMap-CEU
566	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12802	CEPH1454.02	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
566	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12802	CEPH1454.02	chr17-HapMap-CEU
623	ss1503104	A/G	CSHL-HAPMAP	HapMap-CEU	NA12878	CEPH1463.02	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
623	ss69203283	G/G	CSHL-HAPMAP	HapMap-CEU	NA12878	CEPH1463.02	chr17-HapMap-CEU
637	ss1503104	A/A	CSHL-HAPMAP	HapMap-CEU	NA12892	CEPH1463.16	r23_ch17_CEU_illumina:infinium_genotyping_2.0.0
637	ss69203283	A/G	CSHL-HAPMAP	HapMap-CEU	NA12892	CEPH1463.16	chr17-HapMap-CEU
5134	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA19127	YOR077.02	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5134	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA19127	YOR077.02	chr17-HapMap-YRI
5151	ss1503104	G/G	CSHL-HAPMAP	HapMap-HCB	NA18558	CH18558	r23_ch17_HCB_illumina:infinium_genotyping_2.0.0
5151	ss69203283	A/G	CSHL-HAPMAP	HapMap-HCB	NA18558	CH18558	chr17-HapMap-HCB
5189	ss1503104	A/G	CSHL-HAPMAP	HapMap-HCB	NA18592	CH18592	r23_ch17_HCB_illumina:infinium_genotyping_2.0.0
5189	ss69203283	G/G	CSHL-HAPMAP	HapMap-HCB	NA18592	CH18592	chr17-HapMap-HCB
5212	ss1503104	A/A	CSHL-HAPMAP	HapMap-JPT	NA18965	JA18965	r23_ch17_JPT_illumina:infinium_genotyping_2.0.0
5212	ss69203283	A/G	CSHL-HAPMAP	HapMap-JPT	NA18965	JA18965	chr17-HapMap-JPT
5256	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA18854	YOR018.01	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5256	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA18854	YOR018.01	chr17-HapMap-YRI
5257	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA18852	YOR018.02	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5257	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA18852	YOR018.02	chr17-HapMap-YRI
5262	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA18863	YOR024.01	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5262	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA18863	YOR024.01	chr17-HapMap-YRI
5280	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5280	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA19173	YOR047.01	chr17-HapMap-YRI
5281	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA19172	YOR047.02	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5281	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA19172	YOR047.02	chr17-HapMap-YRI
5293	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA19159	YOR056.02	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5293	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA19159	YOR056.02	chr17-HapMap-YRI
5310	ss1503104	A/G	CSHL-HAPMAP	HapMap-YRI	NA19129	YOR077.01	r23_ch17_YRI_illumina:infinium_genotyping_2.0.0
5310	ss69203283	G/G	CSHL-HAPMAP	HapMap-YRI	NA19129	YOR077.01	chr17-HapMap-YRI

Genotype data submitted for	270	samples from	270	individuals	Individual with multiple genotypes submission:	270

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 .