Reference SNP(refSNP) Cluster Report: rs2230680

Reference SNP(refSNP) Cluster Report: rs2230680

RefSNP
Organism:	human (Homo sapiens)
Molecule Type:	Genomic
Created/Updated in build:	98/130
Map to Genome Build:	36.3

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

HGVS Names
NM_002816.3:c.1073T>C
NP_002807.1:p.Val358Ala
NT_010783.14:g.24069473A>G

Links

, Linkout

SNP Details are organized in the following sections:

Submitter records for this RefSNP Cluster

The submission ss48430200 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230680 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
ss3177838	WICVAR\|WI-17269	fwd/B	C/T	aaaaaaggtggaaagacttgaagaacagag	tgttgaacataatattagaataatggccaa	06/28/01	08/14/07	98	cDNA	unknown
ss48430200	APPLERA_GI\|hCV15853219	rev/T	A/G	tctctatgacagattcttacatgttcaaca	ctctgttcttcaagtctttccacctttttt	10/02/05	11/30/05	130	Genomic	unknown
ss104806793	KRIBB_YJKIM\|KHS1118003	rev/T	A/G	tctctatgacagattcttacatgttcaaca	ctctgttcttcaagtctttccacctttttt	06/09/08	06/09/08	130	Genomic	unknown

Fasta sequence (Legend)

 TAATCATATG GTGTCTCATT CTACTAAATA AAATTTAACG AAAACAGTCT TTGCTGAATT
 TTTTGAACTT TGCTATTATA TTAGTTAATA CTTAATTTTT ACAGATTTGG AATATTAAGA
 TGTATACAAT TTTCAGGGAT CTTTTAAAGC TTTTTACCAC AATGGAGTTG ATGCGTTGGT
 CCACACTTGT TGAGGACTAT GGAATGGAAT TAAGAAAAGG TTCCCTTGAG AGTCCTGCAA
 CGGATGTTTT TGGTTCTACA GAGGAAGGTG AAAAAAGGTG GAAAGACTTG AAGAACAGAG
 Y
 TGTTGAACAT GTAAGAATCT GTCATAGAGA TGACAATTTT TATTTTAACC TTTAGTGAAT
 TTACTTTTTA GAATTAAATT TTGGCAATTT TGAGCATAAA CTATTTCATT TGTCACATTT
 GATAACCAAA TGTTCATTTA GGATGTTATG TGTTTAATTC TTCACTTAGG ATATTTTTTT
 TCTATGCCCA CTGTAGTAGT GATGCACATT TGGTGTTCAG ATGTTTACTC TGCATTTCCC
 AAAGCATATT GGAATGTATC TCACTCATCT TGGGTTTTTT CCCTATTTTT GGCTTTTCAG

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
NM_002816

dbSNP Blast Analysis

UniGene Cluster ID
4295

Population Diversity

	Sample Ascertainment				Genotype Detail			Alleles
ss#	Population	Individual Group	Chrom. Sample Cnt.	Source	C/T	T/T	HWP	C	T
ss3177838	MITOGPOP6	multiple	48	IG	0.042	0.958	1.000	0.021	0.979

	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	0.017	0.983		0.008	0.992

ss48430200	AGI_ASP population	multiple	78	IG	0.026	0.974	1.000	0.013	0.987

Summary	Average Het.+/- std err:	Individual Count	Founders Count	Individual Overlap	Genotype Conflict
	0.011+/-0.073	39	39	0	0

Validation Summary:

Validation status	Marker displays Mendelian segregation	PCR results confirmed in multiple reactions	Homozygotes detected in individual genotype data
	UNKNOWN	YES	YES

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Revised: May 25, 2006 1:38 PM .