Reference SNP(refSNP) Cluster Report: rs17095822

Reference SNP(refSNP) Cluster Report: rs17095822

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	123/130
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_001130042.1:c.547G>A
NM_001130043.1:c.547G>A
NM_001134759.1:c.136G>A
NM_001889.2:c.547G>A
NM_001889.3:c.547G>A
NP_001123514.1:p.Glu183Lys
NP_001123515.1:p.Glu183Lys
NP_001128231.1:p.Glu46Lys
NP_001880.2:p.Glu183Lys
NT_032977.8:g.45147784C>T

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss52072209 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17095822 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
ss23195080	PERLEGEN\|afd1053852	fwd/B	C/T	cattttgcaaaacaatcttttgtccttcct	agtaccagcagtgcccaaaatctttaagcc	08/10/04	09/13/04	123	Genomic	unknown
ss48419488	APPLERA_GI\|hCV25996369	rev/T	A/G	ggcttaaagattttgggcactgctggtact	aggaaggacaaaagattgttttgcaaaatg	09/28/05	11/03/06	126	Genomic	unknown
ss52072209	SI_EXO\|NT_032977.7_28995258	fwd/B	C/T	cattttgcaaaacaatcttttgtccttcct	agtaccagcagtgcccaaaatctttaagcc	03/29/06	03/31/08	127	Genomic	unknown
ss66171916	AFFY\|SNP_A-2197529	rev/T	A/G	gggcactgctggtact	aggaaggacaaaagat	10/27/06	03/31/08	127	Genomic	unknown
ss68770451	PERLEGEN\|PGP01053852	fwd/B	C/T	cattttgcaaaacaatcttttgtccttcct	agtaccagcagtgcccaaaatctttaagcc	01/30/07	03/31/08	127	Genomic	unknown
ss74895620	ILLUMINA\|ILMN_Human_1M_rs17095822	fwd/B	C/T	cattttgcaaaacaatcttttgtccttcct	agtaccagcagtgcccaaaatctttaagcc	08/28/07	08/29/07	129	Genomic	unknown
ss76226944	AFFY\|AFFY_6_1M_SNP_A-2197529	rev/T	A/G	gggcactgctggtact	aggaaggacaaaagat	08/28/07	08/30/07	130	Genomic	unknown
ss83188589	KRIBB_YJKIM\|KHS414721	fwd/B	C/T	cattttgcaaaacaatcttttgtccttcct	agtaccagcagtgcccaaaatctttaagcc	11/30/07	12/04/07	130	Genomic	unknown

Fasta sequence (Legend)

 ACCTCACAGC TGCAAATACA AAGCTGCAGC TTTACTTAGA ATGTTATTTG CATTAAAAAA
 TCAATTTTTA TAGCTATAAG ATTCTAGAGA AGCTATATTC TATTTAATAC ACATAAACAA
 TACAAAAATG ATAGTAAAAG TTTAAAACTT AGACATCTGT TTTTTAAATA AAGTTTTAAA
 ACACGCATAA AAATTCATCG CACTGAAAAA AGGAAGCAAA CAGCTTTAAA GGAGTAGTTG
 GTTAAAAACA TATTAAAAAA CCACGCAAGT CTCCAAGGAA CAAAGTTTGA CTTTTGTAAA
 ACAGTGGAAA ATTTTACCTT AATTTTATCA ATGTAATTCA CTTCTCTGTG ATTGAACACT
 TCATGGGCTC CATTTTGCAA AACAATCTTT TGTCCTTCCT
 Y
 AGTACCAGCA GTGCCCAAAA TCTTTAAGCC ATAAGCTCTA GCAATTTGGC ATGCTGCTAA
 TCCAACCTGA AAAACAAATA TAACCCAAGA GTTATATATT CTCTACACTC CTGTAAACAC
 TTAAATACAT ACAATGAACT TAAGATTCCT ATAGGACCCA CCCTAACTTT AAGGAACTTA
 AGAGTGTAAA TGAAGAAATA AGAAAAACAG CTAACTTTAA TTGAGCATTT AAAATATTCC
 AGGAACCATA CTAAATAATT TCTACATATT GTTTTATTCT ATCCTCACAA TGACCCTATA
 AAGTAGATAC TATTATTGTC CCTATTGTAC AGATAAGAAA GTTGAAGCTT CAAATTATAA
 GTAATTTGGC CAAGTCATAT GCGGAGATGG AAACAGGAGT

GeneView

GeneView via analysis of contig annotation:

View more variation on this gene (click to hide).

Assembly	SNP to Chr	Chr	Chr position	Contig	Contig position	Allele

Function	mRNA				Protein
Function	mRNA to Chr	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function	Chr	mRNA				Protein
Function	Chr	SNP to mRNA	Accession	Position	Allele change	Accession	Position	Residue change

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A

Integrated Maps:

Genome Build	Chr	Chr Pos	Contig	Contig Pos	SNP to Chr	Contig allele	Group term	Group label	Contig label	Neighbor SNP	Map Method

doesn't map to any assembly.

NCBI Resource Links

Resource

Submitter-Referenced
GenBank
NT_032977.7

dbSNP Blast Analysis

UniGene Cluster ID
83114

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/C	C/T	HWP	C	T
ss23195080	AFD_EUR_PANEL	European	48	IG	1.000			1.000

	AFD_AFR_PANEL	African American	46	IG	0.913	0.087	1.000	0.957	0.043

	AFD_CHN_PANEL	Asian	48	IG	1.000			1.000

ss48419488	AGI_ASP population	multiple	74	IG	0.946	0.054	1.000	0.973	0.027

ss52072209	HapMap-CEU	European	120	IG	1.000			1.000

	HapMap-HCB	Asian	90	IG	1.000			1.000

	HapMap-JPT	Asian	90	IG	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	IG	0.833	0.167		0.917	0.083

ss66171916	HapMap-CEU	European	118	GF	1.000			1.000

	HapMap-HCB	Asian	90	GF	1.000			1.000

	HapMap-JPT	Asian	90	GF	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.833	0.167		0.917	0.083

ss68770451	HapMap-CEU	European	120	GF	1.000			1.000

	HapMap-HCB	Asian	90	GF	1.000			1.000

	HapMap-JPT	Asian	90	GF	1.000			1.000

	HapMap-YRI	Sub-Saharan African	120	GF	0.833	0.167		0.917	0.083

ss76226944	ICMHP		10	IG	1.000			1.000

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.045+/-0.143	967	778	276	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 .